Linked Data
ClinVar Variation Id:
189047
dbSNP Id:
rs180177239
ExAC:
2:241812439 G / A
gnomAD v2:
2-241812439-G-A
gnomAD v4:
2-240873022-G-A
COSMIC:
COSM574425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873022G>A , CM000664.2:g.240873022G>A | GRCh38 |
| NC_000002.11:g.241812439G>A , CM000664.1:g.241812439G>A | GRCh37 |
| NC_000002.10:g.241461112G>A | NCBI36 |
| NG_008005.1:g.9278G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.568G>A MANE Select | ENSP00000302620.3:p.Gly190Arg | |
| ENST00000307503.3:c.568G>A | ENSP00000302620.3:p.Gly190Arg | |
| ENST00000472436.1:n.588G>A | ||
| ENST00000476698.1:n.305G>A | ||
| NM_000030.2:c.568G>A | NP_000021.1:p.Gly190Arg | |
| NM_000030.3:c.568G>A MANE Select | NP_000021.1:p.Gly190Arg |