Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50190079G>A , CM000679.2:g.50190079G>A | GRCh38 |
| NC_000017.10:g.48267440G>A , CM000679.1:g.48267440G>A | GRCh37 |
| NC_000017.9:g.45622439G>A | NCBI36 |
| NG_007400.1:g.16561C>T , LRG_1:g.16561C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000088.4:c.2481C>T MANE Select | NP_000079.2:p.Gly827= |
| ENST00000225964.10:c.2481C>T MANE Select | ENSP00000225964.6:p.Gly827= |
| NM_000088.3:c.2481C>T , LRG_1t1:c.2481C>T | NP_000079.2:p.Gly827= |
| ENST00000225964.9:c.2481C>T | ENSP00000225964.5:p.Gly827= |
| XM_005257058.3:c.2481C>T | XP_005257115.2:p.Gly827= |
| XM_005257058.4:c.2481C>T | XP_005257115.2:p.Gly827= |
| XM_005257059.3:c.1563C>T | XP_005257116.2:p.Gly521= |
| XM_005257059.4:c.1563C>T | XP_005257116.2:p.Gly521= |
| XM_011524341.1:c.2283C>T | XP_011522643.1:p.Gly761= |