Linked Data
ClinVar Variation Id:
447832
dbSNP Id:
rs1555727841
gnomAD v4:
19-15180103-C-T
PubMed:
PMID:17879447
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180103C>T , CM000681.2:g.15180103C>T | GRCh38 |
| NC_000019.9:g.15290914C>T , CM000681.1:g.15290914C>T | GRCh37 |
| NC_000019.8:g.15151914C>T | NCBI36 |
| NG_009819.1:g.25879G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3296G>A MANE Select | ENSP00000263388.1:p.Cys1099Tyr | |
| ENST00000263388.6:c.3296G>A | ENSP00000263388.1:p.Cys1099Tyr | |
| ENST00000601011.1:c.3137G>A | ENSP00000473138.1:p.Cys1046Tyr | |
| NM_000435.2:c.3296G>A | NP_000426.2:p.Cys1099Tyr | |
| XM_005259924.3:c.3140G>A | XP_005259981.1:p.Cys1047Tyr | |
| XM_005259924.4:c.3140G>A | XP_005259981.1:p.Cys1047Tyr | |
| NM_000435.3:c.3296G>A MANE Select | NP_000426.2:p.Cys1099Tyr |