Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869248G>A , CM000664.2:g.240869248G>A | GRCh38 |
| NC_000002.11:g.241808665G>A , CM000664.1:g.241808665G>A | GRCh37 |
| NC_000002.10:g.241457338G>A | NCBI36 |
| NG_008005.1:g.5504G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.244G>A MANE Select | ENSP00000302620.3:p.Gly82Arg | |
| ENST00000307503.3:c.244G>A | ENSP00000302620.3:p.Gly82Arg | |
| ENST00000472436.1:n.264G>A | ||
| NM_000030.2:c.244G>A | NP_000021.1:p.Gly82Arg | |
| XR_924060.1:n.405+985C>T | ||
| NM_000030.3:c.244G>A MANE Select | NP_000021.1:p.Gly82Arg |