Linked Data
ClinVar Variation Id:
2885752
ClinVar RCV Id:
RCV003750485
dbSNP Id:
rs754798395
ExAC:
13:23912707 C / T
gnomAD v2:
13-23912707-C-T
gnomAD v4:
13-23338568-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338568C>T , CM000675.2:g.23338568C>T | GRCh38 |
| NC_000013.10:g.23912707C>T , CM000675.1:g.23912707C>T | GRCh37 |
| NC_000013.9:g.22810707C>T | NCBI36 |
| NG_012342.1:g.100135G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15217G>A | ENSP00000508399.1:n.2185+15217G>A | |
| ENST00000682944.1:c.5335G>A | ENSP00000507173.1:p.Val1779Met | |
| ENST00000683210.1:c.2185+15217G>A | ENSP00000506739.1:n.2185+15217G>A | |
| ENST00000683270.1:c.5299G>A | ENSP00000507624.1:p.Val1767Met | |
| ENST00000683367.1:c.2177-9084G>A | ENSP00000507780.1:n.2177-9084G>A | |
| ENST00000683489.1:c.2291+3017G>A | ENSP00000508403.1:n.2291+3017G>A | |
| ENST00000683680.1:c.2318+3017G>A | ENSP00000507223.1:n.2318+3017G>A | |
| ENST00000684163.1:c.2203+8243G>A | ENSP00000508262.1:n.2203+8243G>A | |
| ENST00000684196.1:n.4543-9084G>A | ||
| ENST00000684325.1:c.2185+15217G>A | ENSP00000508121.1:n.2185+15217G>A | |
| ENST00000684385.1:c.2220+8243G>A | ENSP00000507855.1:n.2220+8243G>A | |
| ENST00000684497.1:c.2185+15217G>A | ENSP00000507057.1:n.2185+15217G>A | |
| ENST00000382292.9:c.5308G>A MANE Select | ENSP00000371729.3:p.Val1770Met | |
| ENST00000423156.2:c.2186-9084G>A | ENSP00000390925.2:n.2186-9084G>A | |
| ENST00000455470.6:c.2431+2877G>A | ENSP00000406565.2:n.2431+2877G>A | |
| ENST00000382292.7:c.5308G>A | ENSP00000371729.3:p.Val1770Met | |
| ENST00000382298.7:c.5308G>A | ENSP00000371735.3:p.Val1770Met | |
| ENST00000402364.1:c.3058G>A | ENSP00000385844.1:p.Val1020Met | |
| ENST00000423156.1:c.1058-9084G>A | ENSP00000390925.1:n.1058-9084G>A | |
| ENST00000455470.5:c.2129+2877G>A | ||
| NM_001278055.1:c.4867G>A | NP_001264984.1:p.Val1623Met | |
| NM_014363.5:c.5308G>A | NP_055178.3:p.Val1770Met | |
| XM_005266338.1:c.5335G>A | XP_005266395.1:p.Val1779Met | |
| XM_011535038.1:c.5359G>A | XP_011533340.1:p.Val1787Met | |
| XM_011535039.1:c.5326G>A | XP_011533341.1:p.Val1776Met | |
| XM_005266338.2:c.5335G>A | XP_005266395.1:p.Val1779Met | |
| XM_011535039.2:c.5326G>A | XP_011533341.1:p.Val1776Met | |
| XM_017020539.1:c.5299G>A | XP_016876028.1:p.Val1767Met | |
| XM_024449337.1:c.5335G>A | XP_024305105.1:p.Val1779Met | |
| NM_014363.6:c.5308G>A MANE Select | NP_055178.3:p.Val1770Met | |
| NM_001278055.2:c.4867G>A | NP_001264984.1:p.Val1623Met |