Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50150117T>C , CM000676.2:g.50150117T>C | GRCh38 |
| NC_000014.8:g.50616835T>C , CM000676.1:g.50616835T>C | GRCh37 |
| NC_000014.7:g.49686585T>C | NCBI36 |
| NG_051073.1:g.86577A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.2275A>G MANE Select | NP_008870.2:p.Ile759Val |
| ENST00000216373.10:c.2275A>G MANE Select | ENSP00000216373.5:p.Ile759Val |
| NM_006939.2:c.2275A>G | NP_008870.2:p.Ile759Val |
| NM_006939.3:c.2275A>G | NP_008870.2:p.Ile759Val |
| ENST00000216373.9:c.2275A>G | ENSP00000216373.5:p.Ile759Val |
| ENST00000543680.5:c.2176A>G | ENSP00000445328.1:p.Ile726Val |
| XM_005268021.1:c.2095A>G | XP_005268078.1:p.Ile699Val |
| XM_011537103.1:c.2236A>G | XP_011535405.1:p.Ile746Val |
| XM_011537104.1:c.2275A>G | XP_011535406.1:p.Ile759Val |