Linked Data
ClinVar Variation Id:
1416
ClinVar RCV Id:
RCV000001481
dbSNP Id:
rs121912614
gnomAD v2:
3-164735409-C-T
gnomAD v4:
3-165017621-C-T
PubMed:
PMID:16329100
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165017621C>T , CM000665.2:g.165017621C>T | GRCh38 |
| NC_000003.11:g.164735409C>T , CM000665.1:g.164735409C>T | GRCh37 |
| NC_000003.10:g.166218103C>T | NCBI36 |
| NG_017043.1:g.65875G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.3686G>A MANE Select | ENSP00000264382.3:p.Cys1229Tyr | |
| ENST00000264382.7:c.3686G>A | ENSP00000264382.3:p.Cys1229Tyr | |
| NM_001041.3:c.3686G>A | NP_001032.2:p.Cys1229Tyr | |
| XM_011513078.1:c.3587G>A | XP_011511380.1:p.Cys1196Tyr | |
| XM_011513078.2:c.3587G>A | XP_011511380.1:p.Cys1196Tyr | |
| NM_001041.4:c.3686G>A MANE Select | NP_001032.2:p.Cys1229Tyr |