SNP Links for Protein (Select 223890284) - SNP

Links from Protein

Items: 1 to 20 of 466

<< First< Prev

Page of 24

Next >Last >>

Select item 14903724911.

rs1490372491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:46014899 (GRCh38)
10:51580923 (GRCh37)
Canonical SPDI:: NC_000010.11:46014898:G:A,NC_000010.11:46014898:G:C
Gene:: NCOA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000216/4 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
T=0.00006/1 (TOMMO)
C=0.000893/4 (Estonian)
HGVS:: NC_000010.11:g.46014899G>A, NC_000010.11:g.46014899G>C, NW_003871068.1:g.286014G>A, NW_003871068.1:g.286014G>C, NG_023372.1:g.20816C>T, NG_023372.1:g.20816C>G, NM_005437.4:c.326C>T, NM_005437.4:c.326C>G, NM_005437.3:c.326C>T, NM_005437.3:c.326C>G, NM_001145262.2:c.326C>T, NM_001145262.2:c.326C>G, NM_001145262.1:c.326C>T, NM_001145262.1:c.326C>G, NM_001145260.2:c.374C>T, NM_001145260.2:c.374C>G, NM_001145260.1:c.374C>T, NM_001145260.1:c.374C>G, NM_001145261.2:c.374C>T, NM_001145261.2:c.374C>G, NM_001145261.1:c.374C>T, NM_001145261.1:c.374C>G, NM_001145263.2:c.326C>T, NM_001145263.2:c.326C>G, NM_001145263.1:c.326C>T, NM_001145263.1:c.326C>G, NC_000010.10:g.51580923C>T, NC_000010.10:g.51580923C>G, NP_005428.1:p.Thr109Ile, NP_005428.1:p.Thr109Ser, NP_001138734.1:p.Thr109Ile, NP_001138734.1:p.Thr109Ser, NP_001138732.1:p.Thr125Ile, NP_001138732.1:p.Thr125Ser, NP_001138733.1:p.Thr125Ile, NP_001138733.1:p.Thr125Ser, NP_001138735.1:p.Thr109Ile, NP_001138735.1:p.Thr109Ser

Select item 14891436072.

rs1489143607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:46010276 (GRCh38)
10:51585546 (GRCh37)
Canonical SPDI:: NC_000010.11:46010275:G:A
Gene:: NCOA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000010.11:g.46010276G>A, NW_003871068.1:g.281391G>A, NG_023372.1:g.25439C>T, NM_005437.4:c.1645C>T, NM_005437.3:c.1645C>T, NM_001145262.2:c.1645C>T, NM_001145262.1:c.1645C>T, NM_001145260.2:c.1693C>T, NM_001145260.1:c.1693C>T, NM_001145261.2:c.1693C>T, NM_001145261.1:c.1693C>T, NM_001145263.2:c.1645C>T, NM_001145263.1:c.1645C>T, NC_000010.10:g.51585546C>T, NP_005428.1:p.Leu549Phe, NP_001138734.1:p.Leu549Phe, NP_001138732.1:p.Leu565Phe, NP_001138733.1:p.Leu565Phe, NP_001138735.1:p.Leu549Phe

Select item 14872054103.

rs1487205410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:46011143 (GRCh38)
10:51584679 (GRCh37)
Canonical SPDI:: NC_000010.11:46011142:A:G,NC_000010.11:46011142:A:T
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.46011143A>G, NC_000010.11:g.46011143A>T, NW_003871068.1:g.282258A>G, NW_003871068.1:g.282258A>T, NG_023372.1:g.24572T>C, NG_023372.1:g.24572T>A, NM_005437.4:c.778T>C, NM_005437.4:c.778T>A, NM_005437.3:c.778T>C, NM_005437.3:c.778T>A, NM_001145262.2:c.778T>C, NM_001145262.2:c.778T>A, NM_001145262.1:c.778T>C, NM_001145262.1:c.778T>A, NM_001145260.2:c.826T>C, NM_001145260.2:c.826T>A, NM_001145260.1:c.826T>C, NM_001145260.1:c.826T>A, NM_001145261.2:c.826T>C, NM_001145261.2:c.826T>A, NM_001145261.1:c.826T>C, NM_001145261.1:c.826T>A, NM_001145263.2:c.778T>C, NM_001145263.2:c.778T>A, NM_001145263.1:c.778T>C, NM_001145263.1:c.778T>A, NC_000010.10:g.51584679T>C, NC_000010.10:g.51584679T>A, NP_005428.1:p.Trp260Arg, NP_005428.1:p.Trp260Arg, NP_001138734.1:p.Trp260Arg, NP_001138734.1:p.Trp260Arg, NP_001138732.1:p.Trp276Arg, NP_001138732.1:p.Trp276Arg, NP_001138733.1:p.Trp276Arg, NP_001138733.1:p.Trp276Arg, NP_001138735.1:p.Trp260Arg, NP_001138735.1:p.Trp260Arg

Select item 14862238274.

rs1486223827 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:46010561 (GRCh38)
10:51585261 (GRCh37)
Canonical SPDI:: NC_000010.11:46010560:T:C
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.46010561T>C, NW_003871068.1:g.281676T>C, NG_023372.1:g.25154A>G, NM_005437.4:c.1360A>G, NM_005437.3:c.1360A>G, NM_001145262.2:c.1360A>G, NM_001145262.1:c.1360A>G, NM_001145260.2:c.1408A>G, NM_001145260.1:c.1408A>G, NM_001145261.2:c.1408A>G, NM_001145261.1:c.1408A>G, NM_001145263.2:c.1360A>G, NM_001145263.1:c.1360A>G, NC_000010.10:g.51585261A>G, NP_005428.1:p.Lys454Glu, NP_001138734.1:p.Lys454Glu, NP_001138732.1:p.Lys470Glu, NP_001138733.1:p.Lys470Glu, NP_001138735.1:p.Lys454Glu

Select item 14857122845.

rs1485712284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:46010434 (GRCh38)
10:51585388 (GRCh37)
Canonical SPDI:: NC_000010.11:46010433:T:A
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.46010434T>A, NW_003871068.1:g.281549T>A, NG_023372.1:g.25281A>T, NM_005437.4:c.1487A>T, NM_005437.3:c.1487A>T, NM_001145262.2:c.1487A>T, NM_001145262.1:c.1487A>T, NM_001145260.2:c.1535A>T, NM_001145260.1:c.1535A>T, NM_001145261.2:c.1535A>T, NM_001145261.1:c.1535A>T, NM_001145263.2:c.1487A>T, NM_001145263.1:c.1487A>T, NC_000010.10:g.51585388A>T, NP_005428.1:p.Glu496Val, NP_001138734.1:p.Glu496Val, NP_001138732.1:p.Glu512Val, NP_001138733.1:p.Glu512Val, NP_001138735.1:p.Glu496Val

Select item 14761106716.

rs1476110671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:46015248 (GRCh38)
10:51580574 (GRCh37)
Canonical SPDI:: NC_000010.11:46015247:T:A
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.46015248T>A, NW_003871068.1:g.286363T>A, NG_023372.1:g.20467A>T, NM_005437.4:c.160A>T, NM_005437.3:c.160A>T, NM_001145262.2:c.160A>T, NM_001145262.1:c.160A>T, NM_001145260.2:c.208A>T, NM_001145260.1:c.208A>T, NM_001145261.2:c.208A>T, NM_001145261.1:c.208A>T, NM_001145263.2:c.160A>T, NM_001145263.1:c.160A>T, NC_000010.10:g.51580574A>T, NP_005428.1:p.Ser54Cys, NP_001138734.1:p.Ser54Cys, NP_001138732.1:p.Ser70Cys, NP_001138733.1:p.Ser70Cys, NP_001138735.1:p.Ser54Cys

Select item 14758994377.

rs1475899437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 10:46011127 (GRCh38)
10:51584695 (GRCh37)
Canonical SPDI:: NC_000010.11:46011126:T:A,NC_000010.11:46011126:T:C,NC_000010.11:46011126:T:G
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.46011127T>A, NC_000010.11:g.46011127T>C, NC_000010.11:g.46011127T>G, NW_003871068.1:g.282242T>A, NW_003871068.1:g.282242T>C, NW_003871068.1:g.282242T>G, NG_023372.1:g.24588A>T, NG_023372.1:g.24588A>G, NG_023372.1:g.24588A>C, NM_005437.4:c.794A>T, NM_005437.4:c.794A>G, NM_005437.4:c.794A>C, NM_005437.3:c.794A>T, NM_005437.3:c.794A>G, NM_005437.3:c.794A>C, NM_001145262.2:c.794A>T, NM_001145262.2:c.794A>G, NM_001145262.2:c.794A>C, NM_001145262.1:c.794A>T, NM_001145262.1:c.794A>G, NM_001145262.1:c.794A>C, NM_001145260.2:c.842A>T, NM_001145260.2:c.842A>G, NM_001145260.2:c.842A>C, NM_001145260.1:c.842A>T, NM_001145260.1:c.842A>G, NM_001145260.1:c.842A>C, NM_001145261.2:c.842A>T, NM_001145261.2:c.842A>G, NM_001145261.2:c.842A>C, NM_001145261.1:c.842A>T, NM_001145261.1:c.842A>G, NM_001145261.1:c.842A>C, NM_001145263.2:c.794A>T, NM_001145263.2:c.794A>G, NM_001145263.2:c.794A>C, NM_001145263.1:c.794A>T, NM_001145263.1:c.794A>G, NM_001145263.1:c.794A>C, NC_000010.10:g.51584695A>T, NC_000010.10:g.51584695A>G, NC_000010.10:g.51584695A>C, NP_005428.1:p.Glu265Val, NP_005428.1:p.Glu265Gly, NP_005428.1:p.Glu265Ala, NP_001138734.1:p.Glu265Val, NP_001138734.1:p.Glu265Gly, NP_001138734.1:p.Glu265Ala, NP_001138732.1:p.Glu281Val, NP_001138732.1:p.Glu281Gly, NP_001138732.1:p.Glu281Ala, NP_001138733.1:p.Glu281Val, NP_001138733.1:p.Glu281Gly, NP_001138733.1:p.Glu281Ala, NP_001138735.1:p.Glu265Val, NP_001138735.1:p.Glu265Gly, NP_001138735.1:p.Glu265Ala

Select item 14714243738.

rs1471424373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:46010764 (GRCh38)
10:51585058 (GRCh37)
Canonical SPDI:: NC_000010.11:46010763:G:A
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.46010764G>A, NW_003871068.1:g.281879G>A, NG_023372.1:g.24951C>T, NM_005437.4:c.1157C>T, NM_005437.3:c.1157C>T, NM_001145262.2:c.1157C>T, NM_001145262.1:c.1157C>T, NM_001145260.2:c.1205C>T, NM_001145260.1:c.1205C>T, NM_001145261.2:c.1205C>T, NM_001145261.1:c.1205C>T, NM_001145263.2:c.1157C>T, NM_001145263.1:c.1157C>T, NC_000010.10:g.51585058C>T, NP_005428.1:p.Thr386Ile, NP_001138734.1:p.Thr386Ile, NP_001138732.1:p.Thr402Ile, NP_001138733.1:p.Thr402Ile, NP_001138735.1:p.Thr386Ile

Select item 14702867469.

rs1470286746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:46015218 (GRCh38)
10:51580604 (GRCh37)
Canonical SPDI:: NC_000010.11:46015217:T:G
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.46015218T>G, NW_003871068.1:g.286333T>G, NG_023372.1:g.20497A>C, NM_005437.4:c.190A>C, NM_005437.3:c.190A>C, NM_001145262.2:c.190A>C, NM_001145262.1:c.190A>C, NM_001145260.2:c.238A>C, NM_001145260.1:c.238A>C, NM_001145261.2:c.238A>C, NM_001145261.1:c.238A>C, NM_001145263.2:c.190A>C, NM_001145263.1:c.190A>C, NC_000010.10:g.51580604A>C

Select item 146911255010.

rs1469112550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:46010943 (GRCh38)
10:51584879 (GRCh37)
Canonical SPDI:: NC_000010.11:46010942:C:T
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.46010943C>T, NW_003871068.1:g.282058C>T, NG_023372.1:g.24772G>A, NM_005437.4:c.978G>A, NM_005437.3:c.978G>A, NM_001145262.2:c.978G>A, NM_001145262.1:c.978G>A, NM_001145260.2:c.1026G>A, NM_001145260.1:c.1026G>A, NM_001145261.2:c.1026G>A, NM_001145261.1:c.1026G>A, NM_001145263.2:c.978G>A, NM_001145263.1:c.978G>A, NC_000010.10:g.51584879G>A

Select item 146750262511.

rs1467502625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:46010495 (GRCh38)
10:51585327 (GRCh37)
Canonical SPDI:: NC_000010.11:46010494:C:A
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000141/5 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.46010495C>A, NW_003871068.1:g.281610C>A, NG_023372.1:g.25220G>T, NM_005437.4:c.1426G>T, NM_005437.3:c.1426G>T, NM_001145262.2:c.1426G>T, NM_001145262.1:c.1426G>T, NM_001145260.2:c.1474G>T, NM_001145260.1:c.1474G>T, NM_001145261.2:c.1474G>T, NM_001145261.1:c.1474G>T, NM_001145263.2:c.1426G>T, NM_001145263.1:c.1426G>T, NC_000010.10:g.51585327G>T, NP_005428.1:p.Ala476Ser, NP_001138734.1:p.Ala476Ser, NP_001138732.1:p.Ala492Ser, NP_001138733.1:p.Ala492Ser, NP_001138735.1:p.Ala476Ser

Select item 146693398912.

rs1466933989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:46012954 (GRCh38)
10:51582868 (GRCh37)
Canonical SPDI:: NC_000010.11:46012953:G:C
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.46012954G>C, NW_003871068.1:g.284069G>C, NG_023372.1:g.22761C>G, NM_005437.4:c.643C>G, NM_005437.3:c.643C>G, NM_001145262.2:c.643C>G, NM_001145262.1:c.643C>G, NM_001145260.2:c.691C>G, NM_001145260.1:c.691C>G, NM_001145261.2:c.691C>G, NM_001145261.1:c.691C>G, NM_001145263.2:c.643C>G, NM_001145263.1:c.643C>G, NC_000010.10:g.51582868C>G, NP_005428.1:p.Gln215Glu, NP_001138734.1:p.Gln215Glu, NP_001138732.1:p.Gln231Glu, NP_001138733.1:p.Gln231Glu, NP_001138735.1:p.Gln215Glu

Select item 146683545013.

rs1466835450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:46010420 (GRCh38)
10:51585402 (GRCh37)
Canonical SPDI:: NC_000010.11:46010419:G:A
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.46010420G>A, NW_003871068.1:g.281535G>A, NG_023372.1:g.25295C>T, NM_005437.4:c.1501C>T, NM_005437.3:c.1501C>T, NM_001145262.2:c.1501C>T, NM_001145262.1:c.1501C>T, NM_001145260.2:c.1549C>T, NM_001145260.1:c.1549C>T, NM_001145261.2:c.1549C>T, NM_001145261.1:c.1549C>T, NM_001145263.2:c.1501C>T, NM_001145263.1:c.1501C>T, NC_000010.10:g.51585402C>T, NP_005428.1:p.Pro501Ser, NP_001138734.1:p.Pro501Ser, NP_001138732.1:p.Pro517Ser, NP_001138733.1:p.Pro517Ser, NP_001138735.1:p.Pro501Ser

Select item 146170396814.

rs1461703968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:46010757 (GRCh38)
10:51585065 (GRCh37)
Canonical SPDI:: NC_000010.11:46010756:A:G
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.46010757A>G, NW_003871068.1:g.281872A>G, NG_023372.1:g.24958T>C, NM_005437.4:c.1164T>C, NM_005437.3:c.1164T>C, NM_001145262.2:c.1164T>C, NM_001145262.1:c.1164T>C, NM_001145260.2:c.1212T>C, NM_001145260.1:c.1212T>C, NM_001145261.2:c.1212T>C, NM_001145261.1:c.1212T>C, NM_001145263.2:c.1164T>C, NM_001145263.1:c.1164T>C, NC_000010.10:g.51585065T>C

Select item 146007398315.

rs1460073983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:46010225 (GRCh38)
10:51585597 (GRCh37)
Canonical SPDI:: NC_000010.11:46010224:G:C
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.46010225G>C, NW_003871068.1:g.281340G>C, NG_023372.1:g.25490C>G, NM_005437.4:c.1696C>G, NM_005437.3:c.1696C>G, NM_001145262.2:c.1696C>G, NM_001145262.1:c.1696C>G, NM_001145260.2:c.1744C>G, NM_001145260.1:c.1744C>G, NM_001145261.2:c.1744C>G, NM_001145261.1:c.1744C>G, NM_001145263.2:c.1696C>G, NM_001145263.1:c.1696C>G, NC_000010.10:g.51585597C>G, NP_005428.1:p.Gln566Glu, NP_001138734.1:p.Gln566Glu, NP_001138732.1:p.Gln582Glu, NP_001138733.1:p.Gln582Glu, NP_001138735.1:p.Gln566Glu

Select item 145408014716.

rs1454080147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:46010379 (GRCh38)
10:51585443 (GRCh37)
Canonical SPDI:: NC_000010.11:46010378:A:G
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.46010379A>G, NW_003871068.1:g.281494A>G, NG_023372.1:g.25336T>C, NM_005437.4:c.1542T>C, NM_005437.3:c.1542T>C, NM_001145262.2:c.1542T>C, NM_001145262.1:c.1542T>C, NM_001145260.2:c.1590T>C, NM_001145260.1:c.1590T>C, NM_001145261.2:c.1590T>C, NM_001145261.1:c.1590T>C, NM_001145263.2:c.1542T>C, NM_001145263.1:c.1542T>C, NC_000010.10:g.51585443T>C

Select item 145381577217.

rs1453815772 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:46011112 (GRCh38)
10:51584710 (GRCh37)
Canonical SPDI:: NC_000010.11:46011111:T:C
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.46011112T>C, NW_003871068.1:g.282227T>C, NG_023372.1:g.24603A>G, NM_005437.4:c.809A>G, NM_005437.3:c.809A>G, NM_001145262.2:c.809A>G, NM_001145262.1:c.809A>G, NM_001145260.2:c.857A>G, NM_001145260.1:c.857A>G, NM_001145261.2:c.857A>G, NM_001145261.1:c.857A>G, NM_001145263.2:c.809A>G, NM_001145263.1:c.809A>G, NC_000010.10:g.51584710A>G, NP_005428.1:p.Gln270Arg, NP_001138734.1:p.Gln270Arg, NP_001138732.1:p.Gln286Arg, NP_001138733.1:p.Gln286Arg, NP_001138735.1:p.Gln270Arg

Select item 144845251018.

rs1448452510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:46010997 (GRCh38)
10:51584825 (GRCh37)
Canonical SPDI:: NC_000010.11:46010996:G:A
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
T=0.000016/2 (ExAC)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.46010997G>A, NW_003871068.1:g.282112G>A, NG_023372.1:g.24718C>T, NM_005437.4:c.924C>T, NM_005437.3:c.924C>T, NM_001145262.2:c.924C>T, NM_001145262.1:c.924C>T, NM_001145260.2:c.972C>T, NM_001145260.1:c.972C>T, NM_001145261.2:c.972C>T, NM_001145261.1:c.972C>T, NM_001145263.2:c.924C>T, NM_001145263.1:c.924C>T, NC_000010.10:g.51584825C>T

Select item 144832073319.

rs1448320733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:46009525 (GRCh38)
10:51586297 (GRCh37)
Canonical SPDI:: NC_000010.11:46009524:C:T
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.46009525C>T, NW_003871068.1:g.280640C>T, NG_023372.1:g.26190G>A, NM_005437.4:c.1725G>A, NM_005437.3:c.1725G>A, NM_001145262.2:c.1725G>A, NM_001145262.1:c.1725G>A, NM_001145260.2:c.1773G>A, NM_001145260.1:c.1773G>A, NM_001145261.2:c.1773G>A, NM_001145261.1:c.1773G>A, NM_001145263.2:c.1725G>A, NM_001145263.1:c.1725G>A, NC_000010.10:g.51586297G>A

Select item 144371892320.

rs1443718923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:46016639 (GRCh38)
10:51579183 (GRCh37)
Canonical SPDI:: NC_000010.11:46016638:T:C
Gene:: NCOA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.46016639T>C, NW_003871068.1:g.287754T>C, NG_023372.1:g.19076A>G, NM_005437.4:c.42A>G, NM_005437.3:c.42A>G, NM_001145262.2:c.42A>G, NM_001145262.1:c.42A>G, NM_001145260.2:c.90A>G, NM_001145260.1:c.90A>G, NM_001145261.2:c.90A>G, NM_001145261.1:c.90A>G, NM_001145263.2:c.42A>G, NM_001145263.1:c.42A>G, NC_000010.10:g.51579183A>G

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 466

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity