Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124482791C>T , CM000671.2:g.124482791C>T | GRCh38 |
| NC_000009.11:g.127245070C>T , CM000671.1:g.127245070C>T | GRCh37 |
| NC_000009.10:g.126284891C>T | NCBI36 |
| NG_008176.1:g.29630G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004959.5:c.1353G>A MANE Select | NP_004950.2:p.Leu451= |
| ENST00000373588.9:c.1353G>A MANE Select | ENSP00000362690.4:p.Leu451= |
| NM_004959.4:c.1353G>A | NP_004950.2:p.Leu451= |
| ENST00000373587.3:c.705G>A | ENSP00000362689.3:p.Leu235= |
| ENST00000373588.8:c.1353G>A | ENSP00000362690.4:p.Leu451= |
| ENST00000620110.4:c.1233G>A | ENSP00000483309.1:p.Leu411= |
| XM_005251871.2:c.1353G>A | XP_005251928.1:p.Leu451= |
| XM_005251872.3:c.1092G>A | XP_005251929.1:p.Leu364= |
| XM_011518455.1:c.1353G>A | XP_011516757.1:p.Leu451= |