Linked Data
ClinVar Variation Id:
7582
dbSNP Id:
rs28938169
ExAC:
10:13340236 G / A
gnomAD v2:
10-13340236-G-A
gnomAD v3:
10-13298236-G-A
gnomAD v4:
10-13298236-G-A
PubMed:
PMID:10767344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13298236G>A , CM000672.2:g.13298236G>A | GRCh38 |
| NC_000010.10:g.13340236G>A , CM000672.1:g.13340236G>A | GRCh37 |
| NC_000010.9:g.13380242G>A | NCBI36 |
| NG_012862.1:g.6895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.85C>T MANE Select | ENSP00000263038.4:p.Pro29Ser | |
| ENST00000263038.8:c.85C>T | ENSP00000263038.4:p.Pro29Ser | |
| ENST00000396913.6:c.-167+1184C>T | ENSP00000380121.2:n.-167+1184C>T | |
| ENST00000396920.7:c.28C>T | ENSP00000380126.3:p.Pro10Ser | |
| ENST00000453759.6:c.-216C>T | ENSP00000412525.2:n.-216C>T | |
| ENST00000463730.1:n.140C>T | ||
| ENST00000479604.1:c.85C>T | ENSP00000420117.1:p.Pro29Ser | |
| NM_001037537.1:c.-167+1184C>T | NP_001032626.1:n.-167+1184C>T | |
| NM_006214.3:c.85C>T | NP_006205.1:p.Pro29Ser | |
| XM_005252469.2:c.130C>T | XP_005252526.1:p.Pro44Ser | |
| NM_001323080.1:c.-216C>T | NP_001310009.1:n.-216C>T | |
| NM_001323082.1:c.85C>T | NP_001310011.1:p.Pro29Ser | |
| NM_001323083.1:c.85C>T | NP_001310012.1:p.Pro29Ser | |
| NM_001323084.1:c.-167+1184C>T | NP_001310013.1:n.-167+1184C>T | |
| NM_006214.4:c.85C>T MANE Select | NP_006205.1:p.Pro29Ser | |
| NM_001037537.2:c.-167+1184C>T | NP_001032626.1:n.-167+1184C>T | |
| NM_001323080.2:c.-216C>T | NP_001310009.1:n.-216C>T | |
| NM_001323082.2:c.85C>T | NP_001310011.1:p.Pro29Ser | |
| NM_001323083.2:c.85C>T | NP_001310012.1:p.Pro29Ser | |
| NM_001323084.2:c.-167+1184C>T | NP_001310013.1:n.-167+1184C>T |