Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555261T>G , CM000663.2:g.169555261T>G | GRCh38 |
| NC_000001.10:g.169524499T>G , CM000663.1:g.169524499T>G | GRCh37 |
| NC_000001.9:g.167791123T>G | NCBI36 |
| NG_011806.1:g.36271A>C , LRG_553:g.36271A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1039A>C MANE Select | ENSP00000356771.3:p.Met347Leu | |
| ENST00000367796.3:c.1039A>C | ENSP00000356770.3:p.Met347Leu | |
| ENST00000367797.7:c.1039A>C | ENSP00000356771.3:p.Met347Leu | |
| NM_000130.4:c.1039A>C , LRG_553t1:c.1039A>C | NP_000121.2:p.Met347Leu | |
| XM_017000660.2:c.628A>C | XP_016856149.1:p.Met210Leu | |
| NM_000130.5:c.1039A>C MANE Select | NP_000121.2:p.Met347Leu |