Linked Data
ClinVar Variation Id:
204104
dbSNP Id:
rs180177225
gnomAD v2:
2-241810815-C-A
gnomAD v4:
2-240871398-C-A
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240871398C>A , CM000664.2:g.240871398C>A | GRCh38 |
| NC_000002.11:g.241810815C>A , CM000664.1:g.241810815C>A | GRCh37 |
| NC_000002.10:g.241459488C>A | NCBI36 |
| NG_008005.1:g.7654C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.473C>A MANE Select | ENSP00000302620.3:p.Ser158Ter | |
| ENST00000307503.3:c.473C>A | ENSP00000302620.3:p.Ser158Ter | |
| ENST00000472436.1:n.493C>A | ||
| ENST00000476698.1:n.210C>A | ||
| NM_000030.2:c.473C>A | NP_000021.1:p.Ser158Ter | |
| NM_000030.3:c.473C>A MANE Select | NP_000021.1:p.Ser158Ter |