Linked Data
ClinVar Variation Id:
424684
dbSNP Id:
rs1367809298
gnomAD v2:
9-95482883-T-C
gnomAD v4:
9-92720601-T-C
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92720601T>C , CM000671.2:g.92720601T>C | GRCh38 |
| NC_000009.11:g.95482883T>C , CM000671.1:g.95482883T>C | GRCh37 |
| NC_000009.10:g.94522704T>C | NCBI36 |
| NG_033908.1:g.49201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.761A>G MANE Select | ENSP00000349351.6:p.Lys254Arg | |
| ENST00000356884.10:c.761A>G | ENSP00000349351.6:p.Lys254Arg | |
| ENST00000375512.3:c.761A>G | ENSP00000364662.3:p.Lys254Arg | |
| NM_001003800.1:c.761A>G | NP_001003800.1:p.Lys254Arg | |
| NM_015250.3:c.761A>G | NP_056065.1:p.Lys254Arg | |
| XM_017014551.1:c.842A>G | XP_016870040.1:p.Lys281Arg | |
| NM_001003800.2:c.761A>G MANE Select | NP_001003800.1:p.Lys254Arg | |
| NM_015250.4:c.761A>G | NP_056065.1:p.Lys254Arg |