Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.69314T>G , CM000663.2:g.69314T>G | GRCh38 |
| NC_000001.10:g.69314T>G , CM000663.1:g.69314T>G | GRCh37 |
| NC_000001.9:g.59177T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005484.2:c.287T>G MANE Select | NP_001005484.2:p.Ile96Ser |
| ENST00000641515.2:c.287T>G MANE Select | ENSP00000493376.2:p.Ile96Ser |
| NM_001005484.1:c.224T>G | NP_001005484.1:p.Ile75Ser |
| ENST00000335137.3:c.224T>G | ENSP00000334393.3:p.Ile75Ser |
| ENST00000335137.4:c.224T>G | ENSP00000334393.3:p.Ile75Ser |