Linked Data
dbSNP Id:
rs190195718
ExAC:
6:167754887 C / G
gnomAD v2:
6-167754887-C-G
COSMIC:
COSM3777313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341399C>G , CM000668.2:g.167341399C>G | GRCh38 |
| NC_000006.11:g.167754887C>G , CM000668.1:g.167754887C>G | GRCh37 |
| NC_000006.10:g.167674877C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1499C>G MANE Select | ENSP00000239587.5:p.Ser500Ter | |
| ENST00000649884.1:c.1280C>G | ENSP00000497040.1:p.Ser427Ter | |
| ENST00000239587.9:c.1499C>G | ENSP00000239587.5:p.Ser500Ter | |
| ENST00000515138.1:c.1499C>G | ENSP00000424130.1:p.Ser500Ter | |
| NM_031949.4:c.1499C>G | NP_114155.4:p.Ser500Ter | |
| XM_006715572.2:c.1280C>G | XP_006715635.1:p.Ser427Ter | |
| XM_006715572.4:c.1280C>G | XP_006715635.1:p.Ser427Ter | |
| NM_031949.5:c.1499C>G MANE Select | NP_114155.4:p.Ser500Ter |