Linked Data
ClinVar Variation Id:
1274010
ClinVar RCV Id:
RCV001684998
dbSNP Id:
rs35431622
ExAC:
1:204159922 T / C
gnomAD v2:
1-204159922-T-C
gnomAD v3:
1-204190794-T-C
gnomAD v4:
1-204190794-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190794T>C , CM000663.2:g.204190794T>C | GRCh38 |
| NC_000001.10:g.204159922T>C , CM000663.1:g.204159922T>C | GRCh37 |
| NC_000001.9:g.202426545T>C | NCBI36 |
| NG_032151.1:g.10698A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.107A>G MANE Select | ENSP00000356162.4:p.Gln36Arg | |
| ENST00000367194.4:c.107A>G | ENSP00000356162.4:p.Gln36Arg | |
| ENST00000625357.1:c.107A>G | ENSP00000485957.1:p.Gln36Arg | |
| NM_002256.3:c.107A>G | NP_002247.3:p.Gln36Arg | |
| XM_011509525.1:c.107A>G | XP_011507827.1:p.Gln36Arg | |
| NM_002256.4:c.107A>G MANE Select | NP_002247.3:p.Gln36Arg |