Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49191730C= , CM000685.2:g.49191730C= | GRCh38 |
| NC_000023.10:g.49048187C= , CM000685.1:g.49048187C= | GRCh37 |
| NC_000023.9:g.48935131C= | NCBI36 |
| NG_012532.1:g.13475G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003179.3:c.649G= MANE Select | NP_003170.1:p.Gly217= |
| ENST00000263233.9:c.649G= MANE Select | ENSP00000263233.4:p.Gly217= |
| NM_003179.2:c.649G= | NP_003170.1:p.Gly217= |
| ENST00000263233.8:c.649G= | ENSP00000263233.4:p.Gly217= |
| ENST00000376303.6:c.*401G= | ENSP00000365480.2:n.*401G= |
| ENST00000472598.5:c.318G= | |
| ENST00000479808.5:c.649G= | ENSP00000418169.1:p.Gly217= |
| ENST00000689634.1:n.2236G= | |
| ENST00000692723.1:n.675G= | |
| XM_011543950.1:c.328G= | XP_011542252.1:p.Gly110= |
| XM_011543951.1:c.295G= | XP_011542253.1:p.Gly99= |