Linked Data
ClinVar Variation Id:
7592
dbSNP Id:
rs121909132
ExAC:
1:16375032 G / A
gnomAD v2:
1-16375032-G-A
gnomAD v3:
1-16048537-G-A
gnomAD v4:
1-16048537-G-A
COSMIC:
COSM1335867
PubMed:
PMID:9326936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16048537G>A , CM000663.2:g.16048537G>A | GRCh38 |
| NC_000001.10:g.16375032G>A , CM000663.1:g.16375032G>A | GRCh37 |
| NC_000001.9:g.16247619G>A | NCBI36 |
| NG_013079.1:g.9786G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682338.1:c.610G>A | ENSP00000507062.1:p.Ala204Thr | |
| ENST00000682793.1:c.610G>A | ENSP00000506910.1:p.Ala204Thr | |
| ENST00000682838.1:c.*268G>A | ENSP00000507652.1:n.*268G>A | |
| ENST00000683578.1:c.610G>A | ENSP00000507430.1:p.Ala204Thr | |
| ENST00000683661.1:n.2145G>A | ||
| ENST00000684324.1:c.610G>A | ENSP00000507937.1:p.Ala204Thr | |
| ENST00000684545.1:c.610G>A | ENSP00000506733.1:p.Ala204Thr | |
| ENST00000684714.1:c.610G>A | ENSP00000506861.1:p.Ala204Thr | |
| ENST00000684731.1:n.71G>A | ||
| ENST00000375679.9:c.610G>A MANE Select | ENSP00000364831.5:p.Ala204Thr | |
| ENST00000375679.8:c.610G>A | ENSP00000364831.4:p.Ala204Thr | |
| ENST00000619181.4:c.587+23G>A | ENSP00000483866.1:n.587+23G>A | |
| NM_000085.4:c.610G>A | NP_000076.2:p.Ala204Thr | |
| XM_011540619.1:c.451G>A | XP_011538921.1:p.Ala151Thr | |
| XM_011540620.1:c.610G>A | XP_011538922.1:p.Ala204Thr | |
| NM_000085.5:c.610G>A MANE Select | NP_000076.2:p.Ala204Thr |