Linked Data
dbSNP Id:
rs559705593
ExAC:
1:59248138 T / G
gnomAD v2:
1-59248138-T-G
gnomAD v3:
1-58782466-T-G
gnomAD v4:
1-58782466-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782466T>G , CM000663.2:g.58782466T>G | GRCh38 |
| NC_000001.10:g.59248138T>G , CM000663.1:g.59248138T>G | GRCh37 |
| NC_000001.9:g.59020726T>G | NCBI36 |
| NG_047027.1:g.6648A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.671A>C | ENSP00000518166.1:p.Gln224Pro | |
| ENST00000371222.4:c.605A>C MANE Select | ENSP00000360266.2:p.Gln202Pro | |
| ENST00000678696.1:c.605A>C | ENSP00000503132.1:p.Gln202Pro | |
| ENST00000371222.3:c.605A>C | ENSP00000360266.2:p.Gln202Pro | |
| NM_002228.3:c.605A>C | NP_002219.1:p.Gln202Pro | |
| NM_002228.4:c.605A>C MANE Select | NP_002219.1:p.Gln202Pro |