Linked Data
ClinVar Variation Id:
435373
ClinVar RCV Id:
RCV000501485
dbSNP Id:
rs1427357469
gnomAD v2:
1-37270697-T-C
gnomAD v4:
1-36805096-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36805096T>C , CM000663.2:g.36805096T>C | GRCh38 |
| NC_000001.10:g.37270697T>C , CM000663.1:g.37270697T>C | GRCh37 |
| NC_000001.9:g.37043284T>C | NCBI36 |
| NG_011447.1:g.234148A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373091.8:c.2456A>G MANE Select | ENSP00000362183.3:p.Gln819Arg | |
| ENST00000373091.7:c.2456A>G | ENSP00000362183.3:p.Gln819Arg | |
| ENST00000373093.4:c.2456A>G | ENSP00000362185.4:p.Gln819Arg | |
| NM_000831.3:c.2456A>G | NP_000822.2:p.Gln819Arg | |
| XM_011541295.1:c.1361A>G | XP_011539597.1:p.Gln454Arg | |
| NM_000831.4:c.2456A>G MANE Select | NP_000822.2:p.Gln819Arg |