Linked Data
ClinVar Variation Id:
60506
ClinVar RCV Id:
RCV000054404
RCV000159100
RCV000207349
RCV000856747
RCV001731346
RCV001813373
RCV002399414
RCV003390753
dbSNP Id:
rs672601334
COSMIC:
COSM1747807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155904798G>C , CM000663.2:g.155904798G>C | GRCh38 |
| NC_000001.10:g.155874589G>C , CM000663.1:g.155874589G>C | GRCh37 |
| NC_000001.9:g.154141213G>C | NCBI36 |
| NG_033885.1:g.11605C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461050.6:c.170C>G | ENSP00000476319.1:p.Ala57Gly | |
| ENST00000539040.6:c.62C>G | ENSP00000441950.1:p.Ala21Gly | |
| ENST00000704061.1:c.215-296C>G | ENSP00000515664.1:n.215-296C>G | |
| ENST00000368323.8:c.170C>G MANE Select | ENSP00000357306.3:p.Ala57Gly | |
| ENST00000650659.1:n.352C>G | ||
| ENST00000651833.1:c.170C>G | ENSP00000498732.1:p.Ala57Gly | |
| ENST00000651853.1:c.170C>G | ENSP00000498685.1:p.Ala57Gly | |
| ENST00000368322.7:c.221C>G | ENSP00000357305.3:p.Ala74Gly | |
| ENST00000368323.7:c.170C>G | ENSP00000357306.3:p.Ala57Gly | |
| ENST00000461050.5:c.170C>G | ENSP00000476319.1:p.Ala57Gly | |
| ENST00000539040.5:c.62C>G | ENSP00000441950.1:p.Ala21Gly | |
| ENST00000609492.1:c.170C>G | ENSP00000476612.1:p.Ala57Gly | |
| NM_001256820.1:c.62C>G | NP_001243749.1:p.Ala21Gly | |
| NM_001256821.1:c.221C>G | NP_001243750.1:p.Ala74Gly | |
| NM_006912.5:c.170C>G | NP_008843.1:p.Ala57Gly | |
| NM_001256820.2:c.62C>G | NP_001243749.1:p.Ala21Gly | |
| NM_001256821.2:c.221C>G | NP_001243750.1:p.Ala74Gly | |
| NM_006912.6:c.170C>G MANE Select | NP_008843.1:p.Ala57Gly |