Linked Data
dbSNP Id:
rs763958620
ExAC:
1:59248126 T / C
gnomAD v2:
1-59248126-T-C
gnomAD v3:
1-58782454-T-C
gnomAD v4:
1-58782454-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782454T>C , CM000663.2:g.58782454T>C | GRCh38 |
| NC_000001.10:g.59248126T>C , CM000663.1:g.59248126T>C | GRCh37 |
| NC_000001.9:g.59020714T>C | NCBI36 |
| NG_047027.1:g.6660A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.683A>G | ENSP00000518166.1:p.Gln228Arg | |
| ENST00000371222.4:c.617A>G MANE Select | ENSP00000360266.2:p.Gln206Arg | |
| ENST00000678696.1:c.617A>G | ENSP00000503132.1:p.Gln206Arg | |
| ENST00000371222.3:c.617A>G | ENSP00000360266.2:p.Gln206Arg | |
| NM_002228.3:c.617A>G | NP_002219.1:p.Gln206Arg | |
| NM_002228.4:c.617A>G MANE Select | NP_002219.1:p.Gln206Arg |