Linked Data
ClinVar Variation Id:
4439
dbSNP Id:
rs113994022
ExAC:
1:45444021 G / A
gnomAD v2:
1-45444021-G-A
gnomAD v3:
1-44978349-G-A
gnomAD v4:
1-44978349-G-A
PubMed:
PMID:11835386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44978349G>A , CM000663.2:g.44978349G>A | GRCh38 |
| NC_000001.10:g.45444021G>A , CM000663.1:g.45444021G>A | GRCh37 |
| NC_000001.9:g.45216608G>A | NCBI36 |
| NG_015864.1:g.13341C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360403.7:c.260C>T MANE Select | ENSP00000353575.2:p.Ala87Val | |
| ENST00000360403.6:c.260C>T | ENSP00000353575.2:p.Ala87Val | |
| ENST00000372182.6:n.373C>T | ||
| ENST00000372183.7:c.260C>T | ENSP00000361257.3:p.Ala87Val | |
| ENST00000477953.5:n.363C>T | ||
| ENST00000480675.5:c.260C>T | ENSP00000485842.1:p.Ala87Val | |
| ENST00000487532.5:n.372C>T | ||
| ENST00000497010.1:n.372C>T | ||
| ENST00000620860.4:c.260C>T | ENSP00000483996.1:p.Ala87Val | |
| NM_001166588.2:c.260C>T | NP_001160060.1:p.Ala87Val | |
| NM_001261418.1:c.260C>T | NP_001248347.1:p.Ala87Val | |
| NM_020365.4:c.260C>T | NP_065098.1:p.Ala87Val | |
| XM_011542396.1:c.260C>T | XP_011540698.1:p.Ala87Val | |
| XM_017002745.2:c.260C>T | XP_016858234.1:p.Ala87Val | |
| XM_017002746.1:c.-195C>T | XP_016858235.1:n.-195C>T | |
| XM_017002747.1:c.-195C>T | XP_016858236.1:n.-195C>T | |
| NM_020365.5:c.260C>T MANE Select | NP_065098.1:p.Ala87Val | |
| NM_001166588.3:c.260C>T | NP_001160060.1:p.Ala87Val | |
| NM_001261418.2:c.260C>T | NP_001248347.1:p.Ala87Val |