Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1816867C>T , CM000666.2:g.1816867C>T | GRCh38 |
| NC_000004.11:g.1818594C>T , CM000666.1:g.1818594C>T | GRCh37 |
| NC_000004.10:g.1788392C>T | NCBI36 |
| NG_013063.1:g.44381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.1791G>A MANE Select | ENSP00000305653.2:p.Lys597= | |
| ENST00000302787.2:c.1791G>A | ENSP00000305653.2:p.Lys597= | |
| NM_012318.2:c.1791G>A | NP_036450.1:p.Lys597= | |
| XM_005247970.3:c.876G>A | XP_005248027.1:p.Lys292= | |
| XM_006713884.1:c.1788G>A | XP_006713947.1:p.Lys596= | |
| NM_012318.3:c.1791G>A MANE Select | NP_036450.1:p.Lys597= |