Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541399T>G , CM000663.2:g.169541399T>G | GRCh38 |
| NC_000001.10:g.169510637T>G , CM000663.1:g.169510637T>G | GRCh37 |
| NC_000001.9:g.167777261T>G | NCBI36 |
| NG_011806.1:g.50133A>C , LRG_553:g.50133A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.3691A>C MANE Select | NP_000121.2:p.Ile1231Leu |
| ENST00000367797.9:c.3691A>C MANE Select | ENSP00000356771.3:p.Ile1231Leu |
| NM_000130.4:c.3691A>C , LRG_553t1:c.3691A>C | NP_000121.2:p.Ile1231Leu |
| ENST00000367796.3:c.3706A>C | ENSP00000356770.3:p.Ile1236Leu |
| ENST00000367797.7:c.3691A>C | ENSP00000356771.3:p.Ile1231Leu |
| XM_017000660.2:c.3280A>C | XP_016856149.1:p.Ile1094Leu |