Linked Data
ClinVar Variation Id:
204109
dbSNP Id:
rs180177232
gnomAD v2:
2-241810861-C-A
gnomAD v4:
2-240871444-C-A
PubMed:
PMID:15253729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240871444C>A , CM000664.2:g.240871444C>A | GRCh38 |
| NC_000002.11:g.241810861C>A , CM000664.1:g.241810861C>A | GRCh37 |
| NC_000002.10:g.241459534C>A | NCBI36 |
| NG_008005.1:g.7700C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.519C>A MANE Select | ENSP00000302620.3:p.Cys173Ter | |
| ENST00000307503.3:c.519C>A | ENSP00000302620.3:p.Cys173Ter | |
| ENST00000472436.1:n.539C>A | ||
| ENST00000476698.1:n.256C>A | ||
| NM_000030.2:c.519C>A | NP_000021.1:p.Cys173Ter | |
| NM_000030.3:c.519C>A MANE Select | NP_000021.1:p.Cys173Ter |