Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154902134T>A , CM000685.2:g.154902134T>A | GRCh38 |
| NC_000023.10:g.154130409T>A , CM000685.1:g.154130409T>A | GRCh37 |
| NC_000023.9:g.153783603T>A | NCBI36 |
| NG_011403.1:g.125590A>T | |
| NG_011403.2:g.125590A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6032A>T MANE Select | NP_000123.1:p.Lys2011Ile |
| ENST00000360256.9:c.6032A>T MANE Select | ENSP00000353393.4:p.Lys2011Ile |
| NM_000132.3:c.6032A>T | NP_000123.1:p.Lys2011Ile |
| ENST00000360256.8:c.6032A>T | ENSP00000353393.4:p.Lys2011Ile |
| XM_011531126.1:c.5927A>T | XP_011529428.1:p.Lys1976Ile |