Linked Data
ClinVar Variation Id:
1477898
ClinVar RCV Id:
RCV001973935
dbSNP Id:
rs2106427637
COSMIC:
COSM3579993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869311G>A , CM000664.2:g.240869311G>A | GRCh38 |
| NC_000002.11:g.241808728G>A , CM000664.1:g.241808728G>A | GRCh37 |
| NC_000002.10:g.241457401G>A | NCBI36 |
| NG_008005.1:g.5567G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.307G>A MANE Select | ENSP00000302620.3:p.Gly103Arg | |
| ENST00000307503.3:c.307G>A | ENSP00000302620.3:p.Gly103Arg | |
| ENST00000472436.1:n.327G>A | ||
| NM_000030.2:c.307G>A | NP_000021.1:p.Gly103Arg | |
| XR_924060.1:n.405+922C>T | ||
| NM_000030.3:c.307G>A MANE Select | NP_000021.1:p.Gly103Arg |