Linked Data
ClinVar Variation Id:
420177
dbSNP Id:
rs202058123
gnomAD v3:
1-15445606-G-C
gnomAD v4:
1-15445606-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445606G>C , CM000663.2:g.15445606G>C | GRCh38 |
| NC_000001.10:g.15772101G>C , CM000663.1:g.15772101G>C | GRCh37 |
| NC_000001.9:g.15644688G>C | NCBI36 |
| NG_009253.1:g.12164G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.649G>C MANE Select | ENSP00000365116.4:p.Gly217Arg | |
| ENST00000375943.6:c.*103G>C | ENSP00000365110.2:n.*103G>C | |
| ENST00000375949.4:c.649G>C | ENSP00000365116.4:p.Gly217Arg | |
| ENST00000483406.1:n.413G>C | ||
| NM_007272.2:c.649G>C | NP_009203.2:p.Gly217Arg | |
| XM_011540550.1:c.503G>C | XP_011538852.1:p.Arg168Pro | |
| NM_007272.3:c.649G>C MANE Select | NP_009203.2:p.Gly217Arg |