Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290983A>T , CM000668.2:g.24290983A>T | GRCh38 |
| NC_000006.11:g.24291211A>T , CM000668.1:g.24291211A>T | GRCh37 |
| NC_000006.10:g.24399190A>T | NCBI36 |
| NG_012829.1:g.72070T>A | |
| NG_012829.2:g.97310T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016356.5:c.653T>A MANE Select | NP_057440.2:p.Leu218Gln |
| ENST00000378454.8:c.653T>A MANE Select | ENSP00000367715.3:p.Leu218Gln |
| NM_001195610.1:c.653T>A | NP_001182539.1:p.Leu218Gln |
| NM_001195610.2:c.653T>A | NP_001182539.1:p.Leu218Gln |
| NM_016356.4:c.653T>A | NP_057440.2:p.Leu218Gln |
| ENST00000378454.7:c.653T>A | ENSP00000367715.3:p.Leu218Gln |