Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.62063085T>C , CM000679.2:g.62063085T>C | GRCh38 |
| NC_000017.10:g.60140446T>C , CM000679.1:g.60140446T>C | GRCh37 |
| NC_000017.9:g.57495228T>C | NCBI36 |
| NG_046948.1:g.7227A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397786.7:c.283A>G MANE Select | ENSP00000380888.2:p.Ile95Val | |
| ENST00000397786.6:c.283A>G | ENSP00000380888.2:p.Ile95Val | |
| NM_005121.2:c.283A>G | NP_005112.2:p.Ile95Val | |
| XM_011525551.1:c.283A>G | XP_011523853.1:p.Ile95Val | |
| XM_011525552.1:c.283A>G | XP_011523854.1:p.Ile95Val | |
| XM_011525551.2:c.283A>G | XP_011523853.1:p.Ile95Val | |
| XM_011525552.2:c.283A>G | XP_011523854.1:p.Ile95Val | |
| NM_005121.3:c.283A>G MANE Select | NP_005112.2:p.Ile95Val |