Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220878394T>C , CM000663.2:g.220878394T>C | GRCh38 |
| NC_000001.10:g.221051736T>C , CM000663.1:g.221051736T>C | GRCh37 |
| NC_000001.9:g.219118359T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.843-2800T>C | ENSP00000499157.1:n.843-2800T>C | |
| NR_046901.1:n.292+1455A>G | ||
| XM_011510307.1:c.665A>G | XP_011508609.1:p.Gln222Arg |