Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794572T>A , CM000671.2:g.77794572T>A | GRCh38 |
| NC_000009.11:g.80409488T>A , CM000671.1:g.80409488T>A | GRCh37 |
| NC_000009.10:g.79599308T>A | NCBI36 |
| NG_027904.2:g.241732A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002072.5:c.626A>T MANE Select | NP_002063.2:p.Gln209Leu |
| ENST00000286548.9:c.626A>T MANE Select | ENSP00000286548.4:p.Gln209Leu |
| NM_002072.4:c.626A>T | NP_002063.2:p.Gln209Leu |
| ENST00000286548.8:c.626A>T | ENSP00000286548.4:p.Gln209Leu |
| XM_017014628.2:c.452A>T | XP_016870117.1:p.Gln151Leu |