Linked Data
dbSNP Id:
rs1302019207
gnomAD v2:
4-186065954-C-A
gnomAD v3:
4-185144800-C-A
gnomAD v4:
4-185144800-C-A
COSMIC:
COSM4885397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144800C>A , CM000666.2:g.185144800C>A | GRCh38 |
| NC_000004.11:g.186065954C>A , CM000666.1:g.186065954C>A | GRCh37 |
| NC_000004.10:g.186302948C>A | NCBI36 |
| NG_013001.1:g.6538C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.148C>A MANE Select | ENSP00000281456.5:p.Gln50Lys | |
| ENST00000281456.10:c.148C>A | ENSP00000281456.5:p.Gln50Lys | |
| ENST00000491736.1:c.148C>A | ENSP00000476711.1:p.Gln50Lys | |
| NM_001151.3:c.148C>A | NP_001142.2:p.Gln50Lys | |
| NM_001151.4:c.148C>A MANE Select | NP_001142.2:p.Gln50Lys |