Linked Data
ClinVar Variation Id:
204108
ClinVar RCV Id:
RCV000186314
dbSNP Id:
rs180177231
gnomAD v4:
2-240871443-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240871443G>A , CM000664.2:g.240871443G>A | GRCh38 |
| NC_000002.11:g.241810860G>A , CM000664.1:g.241810860G>A | GRCh37 |
| NC_000002.10:g.241459533G>A | NCBI36 |
| NG_008005.1:g.7699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.518G>A MANE Select | ENSP00000302620.3:p.Cys173Tyr | |
| ENST00000307503.3:c.518G>A | ENSP00000302620.3:p.Cys173Tyr | |
| ENST00000472436.1:n.538G>A | ||
| ENST00000476698.1:n.255G>A | ||
| NM_000030.2:c.518G>A | NP_000021.1:p.Cys173Tyr | |
| NM_000030.3:c.518G>A MANE Select | NP_000021.1:p.Cys173Tyr |