Linked Data
ClinVar Variation Id:
15372
ClinVar RCV Id:
RCV000016624
dbSNP Id:
rs35973315
PubMed:
PMID:3557998
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226773T>C , CM000673.2:g.5226773T>C | GRCh38 |
| NC_000011.9:g.5248003T>C , CM000673.1:g.5248003T>C | GRCh37 |
| NC_000011.8:g.5204579T>C | NCBI36 |
| NG_000007.3:g.70843A>G | |
| NG_059281.1:g.5299A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.119A>G | ENSP00000494175.1:p.Gln40Arg | |
| ENST00000335295.4:c.119A>G MANE Select | ENSP00000333994.3:p.Gln40Arg | |
| ENST00000380315.2:c.119A>G | ENSP00000369671.2:p.Gln40Arg | |
| ENST00000475226.1:n.51A>G | ||
| ENST00000485743.1:n.170A>G | ||
| ENST00000633227.1:c.103A>G | ENSP00000488004.1:p.Arg35Gly | |
| NM_000518.4:c.119A>G | NP_000509.1:p.Gln40Arg | |
| NM_000518.5:c.119A>G MANE Select | NP_000509.1:p.Gln40Arg |