Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50150201T>C , CM000676.2:g.50150201T>C | GRCh38 |
| NC_000014.8:g.50616919T>C , CM000676.1:g.50616919T>C | GRCh37 |
| NC_000014.7:g.49686669T>C | NCBI36 |
| NG_051073.1:g.86493A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.2191A>G MANE Select | NP_008870.2:p.Ile731Val |
| ENST00000216373.10:c.2191A>G MANE Select | ENSP00000216373.5:p.Ile731Val |
| NM_006939.2:c.2191A>G | NP_008870.2:p.Ile731Val |
| NM_006939.3:c.2191A>G | NP_008870.2:p.Ile731Val |
| ENST00000216373.9:c.2191A>G | ENSP00000216373.5:p.Ile731Val |
| ENST00000543680.5:c.2092A>G | ENSP00000445328.1:p.Ile698Val |
| XM_005268021.1:c.2011A>G | XP_005268078.1:p.Ile671Val |
| XM_011537103.1:c.2152A>G | XP_011535405.1:p.Ile718Val |
| XM_011537104.1:c.2191A>G | XP_011535406.1:p.Ile731Val |