Linked Data
dbSNP Id:
rs752393848
ExAC:
20:44639817 G / C
gnomAD v2:
20-44639817-G-C
gnomAD v4:
20-46011178-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011178G>C , CM000682.2:g.46011178G>C | GRCh38 |
| NC_000020.10:g.44639817G>C , CM000682.1:g.44639817G>C | GRCh37 |
| NC_000020.9:g.44073224G>C | NCBI36 |
| NG_011468.1:g.7271G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.685G>C MANE Select | ENSP00000361405.3:p.Ala229Pro | |
| NM_004994.2:c.685G>C | NP_004985.2:p.Ala229Pro | |
| NM_004994.3:c.685G>C MANE Select | NP_004985.2:p.Ala229Pro |