Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101243531A>G , CM000665.2:g.101243531A>G | GRCh38 |
| NC_000003.11:g.100962375A>G , CM000665.1:g.100962375A>G | GRCh37 |
| NC_000003.10:g.102445065A>G | NCBI36 |
| NG_028284.1:g.82045T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.2800T>C MANE Select | NP_057331.2:p.Leu934= |
| ENST00000193391.8:c.2800T>C MANE Select | ENSP00000193391.6:p.Leu934= |
| NM_016247.3:c.2800T>C | NP_057331.2:p.Leu934= |
| ENST00000193391.7:c.2800T>C | ENSP00000193391.6:p.Leu934= |
| XM_011512871.1:c.2506T>C | XP_011511173.1:p.Leu836= |
| XM_011512872.1:c.2389T>C | XP_011511174.1:p.Leu797= |