Linked Data
ClinVar Variation Id:
204074
ClinVar RCV Id:
RCV000186280
dbSNP Id:
rs180177170
ExAC:
2:241808407 G / A
gnomAD v2:
2-241808407-G-A
gnomAD v3:
2-240868990-G-A
gnomAD v4:
2-240868990-G-A
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868990G>A , CM000664.2:g.240868990G>A | GRCh38 |
| NC_000002.11:g.241808407G>A , CM000664.1:g.241808407G>A | GRCh37 |
| NC_000002.10:g.241457080G>A | NCBI36 |
| NG_008005.1:g.5246G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.125G>A MANE Select | ENSP00000302620.3:p.Gly42Glu | |
| ENST00000307503.3:c.125G>A | ENSP00000302620.3:p.Gly42Glu | |
| ENST00000472436.1:n.145G>A | ||
| NM_000030.2:c.125G>A | NP_000021.1:p.Gly42Glu | |
| XR_924060.1:n.405+1243C>T | ||
| NM_000030.3:c.125G>A MANE Select | NP_000021.1:p.Gly42Glu |