Linked Data
dbSNP Id:
rs776517365
ExAC:
10:124268242 A / G
gnomAD v2:
10-124268242-A-G
gnomAD v4:
10-122508726-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508726A>G , CM000672.2:g.122508726A>G | GRCh38 |
| NC_000010.10:g.124268242A>G , CM000672.1:g.124268242A>G | GRCh37 |
| NC_000010.9:g.124258232A>G | NCBI36 |
| NG_011554.1:g.52202A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1076A>G MANE Select | ENSP00000357980.3:p.Lys359Arg | |
| ENST00000648167.1:c.758A>G | ENSP00000498033.1:p.Lys253Arg | |
| ENST00000368984.7:c.1076A>G | ENSP00000357980.3:p.Lys359Arg | |
| ENST00000420892.1:c.299A>G | ENSP00000412676.1:p.Lys100Arg | |
| NM_002775.4:c.1076A>G | NP_002766.1:p.Lys359Arg | |
| NM_002775.5:c.1076A>G MANE Select | NP_002766.1:p.Lys359Arg |