Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831811C>A , CM000664.2:g.70831811C>A | GRCh38 |
| NC_000002.11:g.71058942C>A , CM000664.1:g.71058942C>A | GRCh37 |
| NC_000002.10:g.70912450C>A | NCBI36 |
| NG_033914.1:g.9013G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.726G>T MANE Select | ENSP00000386378.3:p.Leu242= | |
| ENST00000410009.4:c.726G>T | ENSP00000386378.3:p.Leu242= | |
| NM_015717.4:c.726G>T | NP_056532.4:p.Leu242= | |
| XM_011532874.1:c.726G>T | XP_011531176.1:p.Leu242= | |
| XM_011532875.1:c.726G>T | XP_011531177.1:p.Leu242= | |
| XM_011532876.1:c.726G>T | XP_011531178.1:p.Leu242= | |
| XM_011532875.2:c.726G>T | XP_011531177.1:p.Leu242= | |
| XM_011532876.2:c.726G>T | XP_011531178.1:p.Leu242= | |
| NM_015717.5:c.726G>T MANE Select | NP_056532.4:p.Leu242= |