Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118820T>C , CM000676.2:g.50118820T>C | GRCh38 |
| NC_000014.8:g.50585538T>C , CM000676.1:g.50585538T>C | GRCh37 |
| NC_000014.7:g.49655288T>C | NCBI36 |
| NG_051073.1:g.117874A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3523A>G MANE Select | NP_008870.2:p.Ile1175Val |
| ENST00000216373.10:c.3523A>G MANE Select | ENSP00000216373.5:p.Ile1175Val |
| NM_006939.2:c.3523A>G | NP_008870.2:p.Ile1175Val |
| NM_006939.3:c.3523A>G | NP_008870.2:p.Ile1175Val |
| ENST00000216373.9:c.3523A>G | ENSP00000216373.5:p.Ile1175Val |
| ENST00000543680.5:c.3424A>G | ENSP00000445328.1:p.Ile1142Val |
| XM_005268021.1:c.3343A>G | XP_005268078.1:p.Ile1115Val |
| XM_011537103.1:c.3484A>G | XP_011535405.1:p.Ile1162Val |