SNP Links for Protein (Select 271398277) - SNP

Links from Protein

Items: 1 to 20 of 415

<< First< Prev

Page of 21

Next >Last >>

Select item 14906321121.

rs1490632112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74518619 (GRCh38)
18:72185854 (GRCh37)
Canonical SPDI:: NC_000018.10:74518618:G:A
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74518619G>A, NC_000018.9:g.72185854G>A, NM_018235.3:c.1189G>A, NM_018235.2:c.1189G>A, NM_001168499.2:c.937G>A, NM_001168499.1:c.937G>A, XM_047437624.1:c.1189G>A, NM_001370249.1:c.1189G>A, NM_001370254.1:c.472G>A, NM_001370250.1:c.1189G>A, XM_047437623.1:c.1189G>A, NM_001370248.1:c.1189G>A, NP_060705.2:p.Gly397Arg, NP_001161971.1:p.Gly313Arg, XP_047293580.1:p.Gly397Arg, NP_001357178.1:p.Gly397Arg, NP_001357183.1:p.Gly158Arg, NP_001357179.1:p.Gly397Arg, XP_047293579.1:p.Gly397Arg, NP_001357177.1:p.Gly397Arg

Select item 14901697872.

rs1490169787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74519000 (GRCh38)
18:72186235 (GRCh37)
Canonical SPDI:: NC_000018.10:74518999:C:T
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.74519000C>T, NC_000018.9:g.72186235C>T, NM_018235.3:c.1262C>T, NM_018235.2:c.1262C>T, NM_001168499.2:c.1010C>T, NM_001168499.1:c.1010C>T, XM_047437624.1:c.1262C>T, NM_001370249.1:c.1262C>T, NM_001370254.1:c.545C>T, NM_001370250.1:c.1262C>T, XM_047437623.1:c.1262C>T, NM_001370248.1:c.1262C>T, NP_060705.2:p.Thr421Ile, NP_001161971.1:p.Thr337Ile, XP_047293580.1:p.Thr421Ile, NP_001357178.1:p.Thr421Ile, NP_001357183.1:p.Thr182Ile, NP_001357179.1:p.Thr421Ile, XP_047293579.1:p.Thr421Ile, NP_001357177.1:p.Thr421Ile

Select item 14884613903.

rs1488461390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:74519033 (GRCh38)
18:72186268 (GRCh37)
Canonical SPDI:: NC_000018.10:74519032:T:A
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.74519033T>A, NC_000018.9:g.72186268T>A, NM_018235.3:c.1295T>A, NM_018235.2:c.1295T>A, NM_001168499.2:c.1043T>A, NM_001168499.1:c.1043T>A, XM_047437624.1:c.1295T>A, NM_001370249.1:c.1295T>A, NM_001370254.1:c.578T>A, NM_001370250.1:c.1295T>A, XM_047437623.1:c.1295T>A, NM_001370248.1:c.1295T>A, NP_060705.2:p.Val432Asp, NP_001161971.1:p.Val348Asp, XP_047293580.1:p.Val432Asp, NP_001357178.1:p.Val432Asp, NP_001357183.1:p.Val193Asp, NP_001357179.1:p.Val432Asp, XP_047293579.1:p.Val432Asp, NP_001357177.1:p.Val432Asp

Select item 14831908334.

rs1483190833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74520056 (GRCh38)
18:72187291 (GRCh37)
Canonical SPDI:: NC_000018.10:74520055:G:A
Gene:: CNDP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74520056G>A, NC_000018.9:g.72187291G>A, NM_018235.3:c.1416G>A, NM_018235.2:c.1416G>A, NM_001168499.2:c.1164G>A, NM_001168499.1:c.1164G>A, XM_047437624.1:c.1416G>A, NM_001370249.1:c.1416G>A, NM_001370254.1:c.699G>A, NM_001370250.1:c.1416G>A, XM_047437623.1:c.1416G>A, NM_001370248.1:c.1416G>A

Select item 14829898105.

rs1482989810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:74501412 (GRCh38)
18:72168647 (GRCh37)
Canonical SPDI:: NC_000018.10:74501411:T:C
Gene:: CNDP2 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.74501412T>C, NC_000018.9:g.72168647T>C, NM_018235.3:c.144T>C, NM_018235.2:c.144T>C, NM_001168499.2:c.144T>C, NM_001168499.1:c.144T>C, XM_047437624.1:c.144T>C, NM_001370249.1:c.144T>C, NM_001370254.1:c.-794T>C, NM_001370250.1:c.144T>C, XM_047437623.1:c.144T>C, NM_001370248.1:c.144T>C

Select item 14819488296.

rs1481948829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74510988 (GRCh38)
18:72178223 (GRCh37)
Canonical SPDI:: NC_000018.10:74510987:G:A
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74510988G>A, NC_000018.9:g.72178223G>A, NM_018235.3:c.632G>A, NM_018235.2:c.632G>A, NM_001168499.2:c.380G>A, NM_001168499.1:c.380G>A, XM_047437624.1:c.632G>A, NM_001370249.1:c.632G>A, NM_001370254.1:c.-306G>A, NM_001370250.1:c.632G>A, XM_047437623.1:c.632G>A, NM_001370248.1:c.632G>A, NP_060705.2:p.Arg211Lys, NP_001161971.1:p.Arg127Lys, XP_047293580.1:p.Arg211Lys, NP_001357178.1:p.Arg211Lys, NP_001357179.1:p.Arg211Lys, XP_047293579.1:p.Arg211Lys, NP_001357177.1:p.Arg211Lys

Select item 14808682957.

rs1480868295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74518572 (GRCh38)
18:72185807 (GRCh37)
Canonical SPDI:: NC_000018.10:74518571:G:A
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74518572G>A, NC_000018.9:g.72185807G>A, NM_018235.3:c.1142G>A, NM_018235.2:c.1142G>A, NM_001168499.2:c.890G>A, NM_001168499.1:c.890G>A, XM_047437624.1:c.1142G>A, NM_001370249.1:c.1142G>A, NM_001370254.1:c.425G>A, NM_001370250.1:c.1142G>A, XM_047437623.1:c.1142G>A, NM_001370248.1:c.1142G>A, NP_060705.2:p.Gly381Asp, NP_001161971.1:p.Gly297Asp, XP_047293580.1:p.Gly381Asp, NP_001357178.1:p.Gly381Asp, NP_001357183.1:p.Gly142Asp, NP_001357179.1:p.Gly381Asp, XP_047293579.1:p.Gly381Asp, NP_001357177.1:p.Gly381Asp

Select item 14796921248.

rs1479692124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74499986 (GRCh38)
18:72167221 (GRCh37)
Canonical SPDI:: NC_000018.10:74499985:A:G
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74499986A>G, NC_000018.9:g.72167221A>G, NM_018235.3:c.13A>G, NM_018235.2:c.13A>G, NM_001168499.2:c.13A>G, NM_001168499.1:c.13A>G, XM_047437624.1:c.13A>G, NM_001370249.1:c.13A>G, NM_001370254.1:c.-925A>G, NM_001370250.1:c.13A>G, XM_047437623.1:c.13A>G, NM_001370248.1:c.13A>G, NP_060705.2:p.Thr5Ala, NP_001161971.1:p.Thr5Ala, XP_047293580.1:p.Thr5Ala, NP_001357178.1:p.Thr5Ala, NP_001357179.1:p.Thr5Ala, XP_047293579.1:p.Thr5Ala, NP_001357177.1:p.Thr5Ala

Select item 14790406639.

rs1479040663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:74518526 (GRCh38)
18:72185761 (GRCh37)
Canonical SPDI:: NC_000018.10:74518525:G:T
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.74518526G>T, NC_000018.9:g.72185761G>T, NM_018235.3:c.1096G>T, NM_018235.2:c.1096G>T, NM_001168499.2:c.844G>T, NM_001168499.1:c.844G>T, XM_047437624.1:c.1096G>T, NM_001370249.1:c.1096G>T, NM_001370254.1:c.379G>T, NM_001370250.1:c.1096G>T, XM_047437623.1:c.1096G>T, NM_001370248.1:c.1096G>T, NP_060705.2:p.Ala366Ser, NP_001161971.1:p.Ala282Ser, XP_047293580.1:p.Ala366Ser, NP_001357178.1:p.Ala366Ser, NP_001357183.1:p.Ala127Ser, NP_001357179.1:p.Ala366Ser, XP_047293579.1:p.Ala366Ser, NP_001357177.1:p.Ala366Ser

Select item 147753318710.

rs1477533187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74510879 (GRCh38)
18:72178114 (GRCh37)
Canonical SPDI:: NC_000018.10:74510878:G:A
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000032/8 (GnomAD_exomes)
A=0.000034/9 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000036/5 (GnomAD)
HGVS:: NC_000018.10:g.74510879G>A, NC_000018.9:g.72178114G>A, NM_018235.3:c.523G>A, NM_018235.2:c.523G>A, NM_001168499.2:c.271G>A, NM_001168499.1:c.271G>A, XM_047437624.1:c.523G>A, NM_001370249.1:c.523G>A, NM_001370254.1:c.-415G>A, NM_001370250.1:c.523G>A, XM_047437623.1:c.523G>A, NM_001370248.1:c.523G>A, NP_060705.2:p.Glu175Lys, NP_001161971.1:p.Glu91Lys, XP_047293580.1:p.Glu175Lys, NP_001357178.1:p.Glu175Lys, NP_001357179.1:p.Glu175Lys, XP_047293579.1:p.Glu175Lys, NP_001357177.1:p.Glu175Lys

Select item 147255722111.

rs1472557221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:74501362 (GRCh38)
18:72168597 (GRCh37)
Canonical SPDI:: NC_000018.10:74501361:T:C
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74501362T>C, NC_000018.9:g.72168597T>C, NM_018235.3:c.94T>C, NM_018235.2:c.94T>C, NM_001168499.2:c.94T>C, NM_001168499.1:c.94T>C, XM_047437624.1:c.94T>C, NM_001370249.1:c.94T>C, NM_001370254.1:c.-844T>C, NM_001370250.1:c.94T>C, XM_047437623.1:c.94T>C, NM_001370248.1:c.94T>C, NP_060705.2:p.Ser32Pro, NP_001161971.1:p.Ser32Pro, XP_047293580.1:p.Ser32Pro, NP_001357178.1:p.Ser32Pro, NP_001357179.1:p.Ser32Pro, XP_047293579.1:p.Ser32Pro, NP_001357177.1:p.Ser32Pro

Select item 147181451312.

rs1471814513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74513624 (GRCh38)
18:72180859 (GRCh37)
Canonical SPDI:: NC_000018.10:74513623:A:G
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74513624A>G, NC_000018.9:g.72180859A>G, NM_018235.3:c.808A>G, NM_018235.2:c.808A>G, NM_001168499.2:c.556A>G, NM_001168499.1:c.556A>G, XM_047437624.1:c.808A>G, NM_001370249.1:c.808A>G, NM_001370254.1:c.91A>G, NM_001370250.1:c.808A>G, XM_047437623.1:c.808A>G, NM_001370248.1:c.808A>G, NP_060705.2:p.Thr270Ala, NP_001161971.1:p.Thr186Ala, XP_047293580.1:p.Thr270Ala, NP_001357178.1:p.Thr270Ala, NP_001357183.1:p.Thr31Ala, NP_001357179.1:p.Thr270Ala, XP_047293579.1:p.Thr270Ala, NP_001357177.1:p.Thr270Ala

Select item 146821617113.

rs1468216171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74519060 (GRCh38)
18:72186295 (GRCh37)
Canonical SPDI:: NC_000018.10:74519059:A:G
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74519060A>G, NC_000018.9:g.72186295A>G, NM_018235.3:c.1322A>G, NM_018235.2:c.1322A>G, NM_001168499.2:c.1070A>G, NM_001168499.1:c.1070A>G, XM_047437624.1:c.1322A>G, NM_001370249.1:c.1322A>G, NM_001370254.1:c.605A>G, NM_001370250.1:c.1322A>G, XM_047437623.1:c.1322A>G, NM_001370248.1:c.1322A>G, NP_060705.2:p.Asp441Gly, NP_001161971.1:p.Asp357Gly, XP_047293580.1:p.Asp441Gly, NP_001357178.1:p.Asp441Gly, NP_001357183.1:p.Asp202Gly, NP_001357179.1:p.Asp441Gly, XP_047293579.1:p.Asp441Gly, NP_001357177.1:p.Asp441Gly

Select item 146103810914.

rs1461038109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:74500024 (GRCh38)
18:72167259 (GRCh37)
Canonical SPDI:: NC_000018.10:74500023:C:G,NC_000018.10:74500023:C:T
Gene:: CNDP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.74500024C>G, NC_000018.10:g.74500024C>T, NC_000018.9:g.72167259C>G, NC_000018.9:g.72167259C>T, NM_018235.3:c.51C>G, NM_018235.3:c.51C>T, NM_018235.2:c.51C>G, NM_018235.2:c.51C>T, NM_001168499.2:c.51C>G, NM_001168499.2:c.51C>T, NM_001168499.1:c.51C>G, NM_001168499.1:c.51C>T, XM_047437624.1:c.51C>G, XM_047437624.1:c.51C>T, NM_001370249.1:c.51C>G, NM_001370249.1:c.51C>T, NM_001370254.1:c.-887C>G, NM_001370254.1:c.-887C>T, NM_001370250.1:c.51C>G, NM_001370250.1:c.51C>T, XM_047437623.1:c.51C>G, XM_047437623.1:c.51C>T, NM_001370248.1:c.51C>G, NM_001370248.1:c.51C>T

Select item 145801853315.

rs1458018533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74511010 (GRCh38)
18:72178245 (GRCh37)
Canonical SPDI:: NC_000018.10:74511009:C:T
Gene:: CNDP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.74511010C>T, NC_000018.9:g.72178245C>T, NM_018235.3:c.654C>T, NM_018235.2:c.654C>T, NM_001168499.2:c.402C>T, NM_001168499.1:c.402C>T, XM_047437624.1:c.654C>T, NM_001370249.1:c.654C>T, NM_001370254.1:c.-284C>T, NM_001370250.1:c.654C>T, XM_047437623.1:c.654C>T, NM_001370248.1:c.654C>T

Select item 145067608616.

rs1450676086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:74501440 (GRCh38)
18:72168675 (GRCh37)
Canonical SPDI:: NC_000018.10:74501439:T:C
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.74501440T>C, NC_000018.9:g.72168675T>C, NM_018235.3:c.172T>C, NM_018235.2:c.172T>C, NM_001168499.2:c.172T>C, NM_001168499.1:c.172T>C, XM_047437624.1:c.172T>C, NM_001370249.1:c.172T>C, NM_001370254.1:c.-766T>C, NM_001370250.1:c.172T>C, XM_047437623.1:c.172T>C, NM_001370248.1:c.172T>C, NP_060705.2:p.Ser58Pro, NP_001161971.1:p.Ser58Pro, XP_047293580.1:p.Ser58Pro, NP_001357178.1:p.Ser58Pro, NP_001357179.1:p.Ser58Pro, XP_047293579.1:p.Ser58Pro, NP_001357177.1:p.Ser58Pro

Select item 145021876917.

rs1450218769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74510876 (GRCh38)
18:72178111 (GRCh37)
Canonical SPDI:: NC_000018.10:74510875:G:A
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000018.10:g.74510876G>A, NC_000018.9:g.72178111G>A, NM_018235.3:c.520G>A, NM_018235.2:c.520G>A, NM_001168499.2:c.268G>A, NM_001168499.1:c.268G>A, XM_047437624.1:c.520G>A, NM_001370249.1:c.520G>A, NM_001370254.1:c.-418G>A, NM_001370250.1:c.520G>A, XM_047437623.1:c.520G>A, NM_001370248.1:c.520G>A, NP_060705.2:p.Asp174Asn, NP_001161971.1:p.Asp90Asn, XP_047293580.1:p.Asp174Asn, NP_001357178.1:p.Asp174Asn, NP_001357179.1:p.Asp174Asn, XP_047293579.1:p.Asp174Asn, NP_001357177.1:p.Asp174Asn

Select item 144943766318.

rs1449437663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74516306 (GRCh38)
18:72183541 (GRCh37)
Canonical SPDI:: NC_000018.10:74516305:G:A
Gene:: CNDP2 (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_000018.10:g.74516306G>A, NC_000018.9:g.72183541G>A, NM_018235.3:c.982G>A, NM_018235.2:c.982G>A, NM_001168499.2:c.730G>A, NM_001168499.1:c.730G>A, XM_047437624.1:c.982G>A, NM_001370249.1:c.982G>A, NM_001370254.1:c.265G>A, NM_001370250.1:c.982G>A, XM_047437623.1:c.982G>A, NM_001370248.1:c.982G>A, NP_060705.2:p.Ala328Thr, NP_001161971.1:p.Ala244Thr, XP_047293580.1:p.Ala328Thr, NP_001357178.1:p.Ala328Thr, NP_001357183.1:p.Ala89Thr, NP_001357179.1:p.Ala328Thr, XP_047293579.1:p.Ala328Thr, NP_001357177.1:p.Ala328Thr

Select item 144909706719.

rs1449097067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74520018 (GRCh38)
18:72187253 (GRCh37)
Canonical SPDI:: NC_000018.10:74520017:A:G
Gene:: CNDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.74520018A>G, NC_000018.9:g.72187253A>G, NM_018235.3:c.1378A>G, NM_018235.2:c.1378A>G, NM_001168499.2:c.1126A>G, NM_001168499.1:c.1126A>G, XM_047437624.1:c.1378A>G, NM_001370249.1:c.1378A>G, NM_001370254.1:c.661A>G, NM_001370250.1:c.1378A>G, XM_047437623.1:c.1378A>G, NM_001370248.1:c.1378A>G, NP_060705.2:p.Thr460Ala, NP_001161971.1:p.Thr376Ala, XP_047293580.1:p.Thr460Ala, NP_001357178.1:p.Thr460Ala, NP_001357183.1:p.Thr221Ala, NP_001357179.1:p.Thr460Ala, XP_047293579.1:p.Thr460Ala, NP_001357177.1:p.Thr460Ala

Select item 144378748820.

rs1443787488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:74518501 (GRCh38)
18:72185736 (GRCh37)
Canonical SPDI:: NC_000018.10:74518500:C:G
Gene:: CNDP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.74518501C>G, NC_000018.9:g.72185736C>G, NM_018235.3:c.1071C>G, NM_018235.2:c.1071C>G, NM_001168499.2:c.819C>G, NM_001168499.1:c.819C>G, XM_047437624.1:c.1071C>G, NM_001370249.1:c.1071C>G, NM_001370254.1:c.354C>G, NM_001370250.1:c.1071C>G, XM_047437623.1:c.1071C>G, NM_001370248.1:c.1071C>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 415

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity