SNP Links for Protein (Select 974005183) - SNP

Select item 14909972111.

rs1490997211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42829728 (GRCh38)
6:42797466 (GRCh37)
Canonical SPDI:: NC_000006.12:42829727:C:T
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42829728C>T, NC_000006.11:g.42797466C>T, NG_054763.1:g.87771C>T, NM_015349.3:c.1395C>T, NM_015349.2:c.1395C>T, NM_015349.1:c.1395C>T, NM_001318819.2:c.1395C>T, NM_001318819.1:c.1395C>T, NM_001393499.1:c.1395C>T, XM_024446390.2:c.1395C>T, XM_024446390.1:c.1395C>T, XM_047418542.1:c.1707C>T, XM_047418543.1:c.1707C>T, XM_047418545.1:c.1707C>T, XM_047418544.1:c.1707C>T, XM_047418547.1:c.1605C>T, XR_007059228.1:n.1663C>T

Select item 14899479462.

rs1489947946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42864822 (GRCh38)
6:42832560 (GRCh37)
Canonical SPDI:: NC_000006.12:42864821:C:T
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42864822C>T, NC_000006.11:g.42832560C>T, NG_054763.1:g.122865C>T, NM_015349.3:c.2616C>T, NM_015349.2:c.2616C>T, NM_015349.1:c.2616C>T, NM_001318819.2:c.2616C>T, NM_001318819.1:c.2616C>T, NM_001393499.1:c.2616C>T, XM_024446390.2:c.2616C>T, XM_024446390.1:c.2616C>T, XM_047418542.1:c.2928C>T, XM_047418543.1:c.2928C>T, XM_047418545.1:c.2928C>T, XM_047418544.1:c.2928C>T, XM_047418547.1:c.2826C>T

Select item 14896598803.

rs1489659880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42857164 (GRCh38)
6:42824902 (GRCh37)
Canonical SPDI:: NC_000006.12:42857163:G:A
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42857164G>A, NC_000006.11:g.42824902G>A, NG_054763.1:g.115207G>A, NM_015349.3:c.2182G>A, NM_015349.2:c.2182G>A, NM_015349.1:c.2182G>A, NM_001318819.2:c.2182G>A, NM_001318819.1:c.2182G>A, NM_001393499.1:c.2182G>A, XM_024446390.2:c.2182G>A, XM_024446390.1:c.2182G>A, XM_047418542.1:c.2494G>A, XM_047418543.1:c.2494G>A, XM_047418545.1:c.2494G>A, XM_047418544.1:c.2494G>A, XM_047418547.1:c.2392G>A, XR_007059228.1:n.2349G>A, NP_056164.1:p.Asp728Asn, NP_001305748.1:p.Asp728Asn, NP_001380428.1:p.Asp728Asn, XP_024302158.1:p.Asp728Asn, XP_047274498.1:p.Asp832Asn, XP_047274499.1:p.Asp832Asn, XP_047274501.1:p.Asp832Asn, XP_047274500.1:p.Asp832Asn, XP_047274503.1:p.Asp798Asn

Select item 14886220804.

rs1488622080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:42822980 (GRCh38)
6:42790718 (GRCh37)
Canonical SPDI:: NC_000006.12:42822979:A:C,NC_000006.12:42822979:A:G
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42822980A>C, NC_000006.12:g.42822980A>G, NC_000006.11:g.42790718A>C, NC_000006.11:g.42790718A>G, NG_054763.1:g.81023A>C, NG_054763.1:g.81023A>G, NM_015349.3:c.136A>C, NM_015349.3:c.136A>G, NM_015349.2:c.136A>C, NM_015349.2:c.136A>G, NM_015349.1:c.136A>C, NM_015349.1:c.136A>G, NM_001318819.2:c.136A>C, NM_001318819.2:c.136A>G, NM_001318819.1:c.136A>C, NM_001318819.1:c.136A>G, NM_001393499.1:c.136A>C, NM_001393499.1:c.136A>G, XM_024446390.2:c.136A>C, XM_024446390.2:c.136A>G, XM_024446390.1:c.136A>C, XM_024446390.1:c.136A>G, XM_047418542.1:c.448A>C, XM_047418542.1:c.448A>G, XM_047418543.1:c.448A>C, XM_047418543.1:c.448A>G, XM_047418545.1:c.448A>C, XM_047418545.1:c.448A>G, XM_047418544.1:c.448A>C, XM_047418544.1:c.448A>G, XM_047418547.1:c.346A>C, XM_047418547.1:c.346A>G, XR_007059228.1:n.404A>C, XR_007059228.1:n.404A>G, NP_056164.1:p.Asn46His, NP_056164.1:p.Asn46Asp, NP_001305748.1:p.Asn46His, NP_001305748.1:p.Asn46Asp, NP_001380428.1:p.Asn46His, NP_001380428.1:p.Asn46Asp, XP_024302158.1:p.Asn46His, XP_024302158.1:p.Asn46Asp, XP_047274498.1:p.Asn150His, XP_047274498.1:p.Asn150Asp, XP_047274499.1:p.Asn150His, XP_047274499.1:p.Asn150Asp, XP_047274501.1:p.Asn150His, XP_047274501.1:p.Asn150Asp, XP_047274500.1:p.Asn150His, XP_047274500.1:p.Asn150Asp, XP_047274503.1:p.Asn116His, XP_047274503.1:p.Asn116Asp

Select item 14860688905.

rs1486068890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:42829829 (GRCh38)
6:42797567 (GRCh37)
Canonical SPDI:: NC_000006.12:42829828:T:G
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42829829T>G, NC_000006.11:g.42797567T>G, NG_054763.1:g.87872T>G, NM_015349.3:c.1496T>G, NM_015349.2:c.1496T>G, NM_015349.1:c.1496T>G, NM_001318819.2:c.1496T>G, NM_001318819.1:c.1496T>G, NM_001393499.1:c.1496T>G, XM_024446390.2:c.1496T>G, XM_024446390.1:c.1496T>G, XM_047418542.1:c.1808T>G, XM_047418543.1:c.1808T>G, XM_047418545.1:c.1808T>G, XM_047418544.1:c.1808T>G, XM_047418547.1:c.1706T>G, XR_007059228.1:n.1764T>G, NP_056164.1:p.Met499Arg, NP_001305748.1:p.Met499Arg, NP_001380428.1:p.Met499Arg, XP_024302158.1:p.Met499Arg, XP_047274498.1:p.Met603Arg, XP_047274499.1:p.Met603Arg, XP_047274501.1:p.Met603Arg, XP_047274500.1:p.Met603Arg, XP_047274503.1:p.Met569Arg

Select item 14858061526.

rs1485806152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42829125 (GRCh38)
6:42796863 (GRCh37)
Canonical SPDI:: NC_000006.12:42829124:C:T
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42829125C>T, NC_000006.11:g.42796863C>T, NG_054763.1:g.87168C>T, NM_015349.3:c.792C>T, NM_015349.2:c.792C>T, NM_015349.1:c.792C>T, NM_001318819.2:c.792C>T, NM_001318819.1:c.792C>T, NM_001393499.1:c.792C>T, XM_024446390.2:c.792C>T, XM_024446390.1:c.792C>T, XM_047418542.1:c.1104C>T, XM_047418543.1:c.1104C>T, XM_047418545.1:c.1104C>T, XM_047418544.1:c.1104C>T, XM_047418547.1:c.1002C>T, XR_007059228.1:n.1060C>T

Select item 14850941567.

rs1485094156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42828807 (GRCh38)
6:42796545 (GRCh37)
Canonical SPDI:: NC_000006.12:42828806:C:T
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42828807C>T, NC_000006.11:g.42796545C>T, NG_054763.1:g.86850C>T, NM_015349.3:c.474C>T, NM_015349.2:c.474C>T, NM_015349.1:c.474C>T, NM_001318819.2:c.474C>T, NM_001318819.1:c.474C>T, NM_001393499.1:c.474C>T, XM_024446390.2:c.474C>T, XM_024446390.1:c.474C>T, XM_047418542.1:c.786C>T, XM_047418543.1:c.786C>T, XM_047418545.1:c.786C>T, XM_047418544.1:c.786C>T, XM_047418547.1:c.684C>T, XR_007059228.1:n.742C>T

Select item 14845807268.

rs1484580726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:42829145 (GRCh38)
6:42796883 (GRCh37)
Canonical SPDI:: NC_000006.12:42829144:C:G,NC_000006.12:42829144:C:T
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42829145C>G, NC_000006.12:g.42829145C>T, NC_000006.11:g.42796883C>G, NC_000006.11:g.42796883C>T, NG_054763.1:g.87188C>G, NG_054763.1:g.87188C>T, NM_015349.3:c.812C>G, NM_015349.3:c.812C>T, NM_015349.2:c.812C>G, NM_015349.2:c.812C>T, NM_015349.1:c.812C>G, NM_015349.1:c.812C>T, NM_001318819.2:c.812C>G, NM_001318819.2:c.812C>T, NM_001318819.1:c.812C>G, NM_001318819.1:c.812C>T, NM_001393499.1:c.812C>G, NM_001393499.1:c.812C>T, XM_024446390.2:c.812C>G, XM_024446390.2:c.812C>T, XM_024446390.1:c.812C>G, XM_024446390.1:c.812C>T, XM_047418542.1:c.1124C>G, XM_047418542.1:c.1124C>T, XM_047418543.1:c.1124C>G, XM_047418543.1:c.1124C>T, XM_047418545.1:c.1124C>G, XM_047418545.1:c.1124C>T, XM_047418544.1:c.1124C>G, XM_047418544.1:c.1124C>T, XM_047418547.1:c.1022C>G, XM_047418547.1:c.1022C>T, XR_007059228.1:n.1080C>G, XR_007059228.1:n.1080C>T, NP_056164.1:p.Ser271Cys, NP_056164.1:p.Ser271Phe, NP_001305748.1:p.Ser271Cys, NP_001305748.1:p.Ser271Phe, NP_001380428.1:p.Ser271Cys, NP_001380428.1:p.Ser271Phe, XP_024302158.1:p.Ser271Cys, XP_024302158.1:p.Ser271Phe, XP_047274498.1:p.Ser375Cys, XP_047274498.1:p.Ser375Phe, XP_047274499.1:p.Ser375Cys, XP_047274499.1:p.Ser375Phe, XP_047274501.1:p.Ser375Cys, XP_047274501.1:p.Ser375Phe, XP_047274500.1:p.Ser375Cys, XP_047274500.1:p.Ser375Phe, XP_047274503.1:p.Ser341Cys, XP_047274503.1:p.Ser341Phe

Select item 14831390969.

rs1483139096 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:42828646 (GRCh38)
6:42796384 (GRCh37)
Canonical SPDI:: NC_000006.12:42828645:A:G
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42828646A>G, NC_000006.11:g.42796384A>G, NG_054763.1:g.86689A>G, NM_015349.3:c.313A>G, NM_015349.2:c.313A>G, NM_015349.1:c.313A>G, NM_001318819.2:c.313A>G, NM_001318819.1:c.313A>G, NM_001393499.1:c.313A>G, XM_024446390.2:c.313A>G, XM_024446390.1:c.313A>G, XM_047418542.1:c.625A>G, XM_047418543.1:c.625A>G, XM_047418545.1:c.625A>G, XM_047418544.1:c.625A>G, XM_047418547.1:c.523A>G, XR_007059228.1:n.581A>G, NP_056164.1:p.Ile105Val, NP_001305748.1:p.Ile105Val, NP_001380428.1:p.Ile105Val, XP_024302158.1:p.Ile105Val, XP_047274498.1:p.Ile209Val, XP_047274499.1:p.Ile209Val, XP_047274501.1:p.Ile209Val, XP_047274500.1:p.Ile209Val, XP_047274503.1:p.Ile175Val

Select item 148262590410.

rs1482625904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42829998 (GRCh38)
6:42797736 (GRCh37)
Canonical SPDI:: NC_000006.12:42829997:T:C
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42829998T>C, NC_000006.11:g.42797736T>C, NG_054763.1:g.88041T>C, NM_015349.3:c.1665T>C, NM_015349.2:c.1665T>C, NM_015349.1:c.1665T>C, NM_001318819.2:c.1665T>C, NM_001318819.1:c.1665T>C, NM_001393499.1:c.1665T>C, XM_024446390.2:c.1665T>C, XM_024446390.1:c.1665T>C, XM_047418542.1:c.1977T>C, XM_047418543.1:c.1977T>C, XM_047418545.1:c.1977T>C, XM_047418544.1:c.1977T>C, XM_047418547.1:c.1875T>C, XR_007059228.1:n.1933T>C

Select item 148258861911.

rs1482588619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:42829291 (GRCh38)
6:42797029 (GRCh37)
Canonical SPDI:: NC_000006.12:42829290:A:C
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42829291A>C, NC_000006.11:g.42797029A>C, NG_054763.1:g.87334A>C, NM_015349.3:c.958A>C, NM_015349.2:c.958A>C, NM_015349.1:c.958A>C, NM_001318819.2:c.958A>C, NM_001318819.1:c.958A>C, NM_001393499.1:c.958A>C, XM_024446390.2:c.958A>C, XM_024446390.1:c.958A>C, XM_047418542.1:c.1270A>C, XM_047418543.1:c.1270A>C, XM_047418545.1:c.1270A>C, XM_047418544.1:c.1270A>C, XM_047418547.1:c.1168A>C, XR_007059228.1:n.1226A>C, NP_056164.1:p.Met320Leu, NP_001305748.1:p.Met320Leu, NP_001380428.1:p.Met320Leu, XP_024302158.1:p.Met320Leu, XP_047274498.1:p.Met424Leu, XP_047274499.1:p.Met424Leu, XP_047274501.1:p.Met424Leu, XP_047274500.1:p.Met424Leu, XP_047274503.1:p.Met390Leu

Select item 148111097312.

rs1481110973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42829489 (GRCh38)
6:42797227 (GRCh37)
Canonical SPDI:: NC_000006.12:42829488:G:A
Gene:: BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42829489G>A, NC_000006.11:g.42797227G>A, NG_054763.1:g.87532G>A, NM_015349.3:c.1156G>A, NM_015349.2:c.1156G>A, NM_015349.1:c.1156G>A, NM_001318819.2:c.1156G>A, NM_001318819.1:c.1156G>A, NM_001393499.1:c.1156G>A, XM_024446390.2:c.1156G>A, XM_024446390.1:c.1156G>A, XM_047418542.1:c.1468G>A, XM_047418543.1:c.1468G>A, XM_047418545.1:c.1468G>A, XM_047418544.1:c.1468G>A, XM_047418547.1:c.1366G>A, XR_007059228.1:n.1424G>A, NP_056164.1:p.Val386Ile, NP_001305748.1:p.Val386Ile, NP_001380428.1:p.Val386Ile, XP_024302158.1:p.Val386Ile, XP_047274498.1:p.Val490Ile, XP_047274499.1:p.Val490Ile, XP_047274501.1:p.Val490Ile, XP_047274500.1:p.Val490Ile, XP_047274503.1:p.Val456Ile

Select item 147510449113.

rs1475104491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42828951 (GRCh38)
6:42796689 (GRCh37)
Canonical SPDI:: NC_000006.12:42828950:G:A
Gene:: BICRAL (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.42828951G>A, NC_000006.11:g.42796689G>A, NG_054763.1:g.86994G>A, NM_015349.3:c.618G>A, NM_015349.2:c.618G>A, NM_015349.1:c.618G>A, NM_001318819.2:c.618G>A, NM_001318819.1:c.618G>A, NM_001393499.1:c.618G>A, XM_024446390.2:c.618G>A, XM_024446390.1:c.618G>A, XM_047418542.1:c.930G>A, XM_047418543.1:c.930G>A, XM_047418545.1:c.930G>A, XM_047418544.1:c.930G>A, XM_047418547.1:c.828G>A, XR_007059228.1:n.886G>A

Select item 147202974714.

rs1472029747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42829050 (GRCh38)
6:42796788 (GRCh37)
Canonical SPDI:: NC_000006.12:42829049:G:A
Gene:: BICRAL (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42829050G>A, NC_000006.11:g.42796788G>A, NG_054763.1:g.87093G>A, NM_015349.3:c.717G>A, NM_015349.2:c.717G>A, NM_015349.1:c.717G>A, NM_001318819.2:c.717G>A, NM_001318819.1:c.717G>A, NM_001393499.1:c.717G>A, XM_024446390.2:c.717G>A, XM_024446390.1:c.717G>A, XM_047418542.1:c.1029G>A, XM_047418543.1:c.1029G>A, XM_047418545.1:c.1029G>A, XM_047418544.1:c.1029G>A, XM_047418547.1:c.927G>A, XR_007059228.1:n.985G>A

Select item 147120469715.

rs1471204697 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 6:42853718 (GRCh38)
6:42821456 (GRCh37)
Canonical SPDI:: NC_000006.12:42853715:CTCCT:CT
Gene:: BICRAL (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42853718_42853720del, NC_000006.11:g.42821456_42821458del, NG_054763.1:g.111761_111763del, NM_015349.3:c.2026_2028del, NM_015349.2:c.2026_2028del, NM_015349.1:c.2026_2028del, NM_001318819.2:c.2026_2028del, NM_001318819.1:c.2026_2028del, NM_001393499.1:c.2026_2028del, XM_024446390.2:c.2026_2028del, XM_024446390.1:c.2026_2028del, XM_047418542.1:c.2338_2340del, XM_047418543.1:c.2338_2340del, XM_047418545.1:c.2338_2340del, XM_047418544.1:c.2338_2340del, XM_047418547.1:c.2236_2238del, NP_056164.1:p.Pro676del, NP_001305748.1:p.Pro676del, NP_001380428.1:p.Pro676del, XP_024302158.1:p.Pro676del, XP_047274498.1:p.Pro780del, XP_047274499.1:p.Pro780del, XP_047274501.1:p.Pro780del, XP_047274500.1:p.Pro780del, XP_047274503.1:p.Pro746del

Select item 146659280216.

rs1466592802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42828897 (GRCh38)
6:42796635 (GRCh37)
Canonical SPDI:: NC_000006.12:42828896:T:C
Gene:: BICRAL (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42828897T>C, NC_000006.11:g.42796635T>C, NG_054763.1:g.86940T>C, NM_015349.3:c.564T>C, NM_015349.2:c.564T>C, NM_015349.1:c.564T>C, NM_001318819.2:c.564T>C, NM_001318819.1:c.564T>C, NM_001393499.1:c.564T>C, XM_024446390.2:c.564T>C, XM_024446390.1:c.564T>C, XM_047418542.1:c.876T>C, XM_047418543.1:c.876T>C, XM_047418545.1:c.876T>C, XM_047418544.1:c.876T>C, XM_047418547.1:c.774T>C, XR_007059228.1:n.832T>C

Select item 146577785117.

rs1465777851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:42865025 (GRCh38)
6:42832763 (GRCh37)
Canonical SPDI:: NC_000006.12:42865024:A:T
Gene:: BICRAL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42865025A>T, NC_000006.11:g.42832763A>T, NG_054763.1:g.123068A>T, NM_015349.3:c.2819A>T, NM_015349.2:c.2819A>T, NM_015349.1:c.2819A>T, NM_001318819.2:c.2819A>T, NM_001318819.1:c.2819A>T, NM_001393499.1:c.2819A>T, XM_024446390.2:c.2819A>T, XM_024446390.1:c.2819A>T, XM_047418542.1:c.3131A>T, XM_047418543.1:c.3131A>T, XM_047418545.1:c.3131A>T, XM_047418544.1:c.3131A>T, XM_047418547.1:c.3029A>T, NP_056164.1:p.His940Leu, NP_001305748.1:p.His940Leu, NP_001380428.1:p.His940Leu, XP_024302158.1:p.His940Leu, XP_047274498.1:p.His1044Leu, XP_047274499.1:p.His1044Leu, XP_047274501.1:p.His1044Leu, XP_047274500.1:p.His1044Leu, XP_047274503.1:p.His1010Leu

Select item 146553720518.

rs1465537205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:42865388 (GRCh38)
6:42833126 (GRCh37)
Canonical SPDI:: NC_000006.12:42865387:G:T
Gene:: BICRAL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42865388G>T, NC_000006.11:g.42833126G>T, NG_054763.1:g.123431G>T, NM_015349.3:c.3182G>T, NM_015349.2:c.3182G>T, NM_015349.1:c.3182G>T, NM_001318819.2:c.3182G>T, NM_001318819.1:c.3182G>T, NM_001393499.1:c.3182G>T, XM_024446390.2:c.3182G>T, XM_024446390.1:c.3182G>T, XM_047418542.1:c.3494G>T, XM_047418543.1:c.3494G>T, XM_047418545.1:c.3494G>T, XM_047418544.1:c.3494G>T, XM_047418547.1:c.3392G>T, NP_056164.1:p.Gly1061Val, NP_001305748.1:p.Gly1061Val, NP_001380428.1:p.Gly1061Val, XP_024302158.1:p.Gly1061Val, XP_047274498.1:p.Gly1165Val, XP_047274499.1:p.Gly1165Val, XP_047274501.1:p.Gly1165Val, XP_047274500.1:p.Gly1165Val, XP_047274503.1:p.Gly1131Val

Select item 146524395819.

rs1465243958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:42829375 (GRCh38)
6:42797113 (GRCh37)
Canonical SPDI:: NC_000006.12:42829374:A:G
Gene:: BICRAL (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42829375A>G, NC_000006.11:g.42797113A>G, NG_054763.1:g.87418A>G, NM_015349.3:c.1042A>G, NM_015349.2:c.1042A>G, NM_015349.1:c.1042A>G, NM_001318819.2:c.1042A>G, NM_001318819.1:c.1042A>G, NM_001393499.1:c.1042A>G, XM_024446390.2:c.1042A>G, XM_024446390.1:c.1042A>G, XM_047418542.1:c.1354A>G, XM_047418543.1:c.1354A>G, XM_047418545.1:c.1354A>G, XM_047418544.1:c.1354A>G, XM_047418547.1:c.1252A>G, XR_007059228.1:n.1310A>G, NP_056164.1:p.Ser348Gly, NP_001305748.1:p.Ser348Gly, NP_001380428.1:p.Ser348Gly, XP_024302158.1:p.Ser348Gly, XP_047274498.1:p.Ser452Gly, XP_047274499.1:p.Ser452Gly, XP_047274501.1:p.Ser452Gly, XP_047274500.1:p.Ser452Gly, XP_047274503.1:p.Ser418Gly

Select item 146478770720.

rs1464787707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:42829306 (GRCh38)
6:42797044 (GRCh37)
Canonical SPDI:: NC_000006.12:42829305:A:G
Gene:: BICRAL (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.42829306A>G, NC_000006.11:g.42797044A>G, NG_054763.1:g.87349A>G, NM_015349.3:c.973A>G, NM_015349.2:c.973A>G, NM_015349.1:c.973A>G, NM_001318819.2:c.973A>G, NM_001318819.1:c.973A>G, NM_001393499.1:c.973A>G, XM_024446390.2:c.973A>G, XM_024446390.1:c.973A>G, XM_047418542.1:c.1285A>G, XM_047418543.1:c.1285A>G, XM_047418545.1:c.1285A>G, XM_047418544.1:c.1285A>G, XM_047418547.1:c.1183A>G, XR_007059228.1:n.1241A>G, NP_056164.1:p.Thr325Ala, NP_001305748.1:p.Thr325Ala, NP_001380428.1:p.Thr325Ala, XP_024302158.1:p.Thr325Ala, XP_047274498.1:p.Thr429Ala, XP_047274499.1:p.Thr429Ala, XP_047274501.1:p.Thr429Ala, XP_047274500.1:p.Thr429Ala, XP_047274503.1:p.Thr395Ala

dbSNP

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Result Filters

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Publication

Function Class

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 887

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