Linked Data
ClinVar Variation Id:
3549
dbSNP Id:
rs267606875
ExAC:
3:100961664 G / A
gnomAD v2:
3-100961664-G-A
gnomAD v3:
3-101242820-G-A
gnomAD v4:
3-101242820-G-A
PubMed:
PMID:20673862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101242820G>A , CM000665.2:g.101242820G>A | GRCh38 |
| NC_000003.11:g.100961664G>A , CM000665.1:g.100961664G>A | GRCh37 |
| NC_000003.10:g.102444354G>A | NCBI36 |
| NG_028284.1:g.82756C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000193391.8:c.2890C>T MANE Select | ENSP00000193391.6:p.Arg964Ter | |
| ENST00000193391.7:c.2890C>T | ENSP00000193391.6:p.Arg964Ter | |
| NM_016247.3:c.2890C>T | NP_057331.2:p.Arg964Ter | |
| XM_011512871.1:c.2596C>T | XP_011511173.1:p.Arg866Ter | |
| XM_011512872.1:c.2479C>T | XP_011511174.1:p.Arg827Ter | |
| NM_016247.4:c.2890C>T MANE Select | NP_057331.2:p.Arg964Ter |