Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273824C>A , CM000672.2:g.80273824C>A | GRCh38 |
| NC_000010.10:g.82033580C>A , CM000672.1:g.82033580C>A | GRCh37 |
| NC_000010.9:g.82023560C>A | NCBI36 |
| NG_008083.1:g.20855G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1145G>T MANE Select | ENSP00000361287.3:p.Arg382Ile | |
| ENST00000372213.7:c.1145G>T | ENSP00000361287.3:p.Arg382Ile | |
| ENST00000480845.1:n.377G>T | ||
| ENST00000485270.5:n.657G>T | ||
| NM_000429.2:c.1145G>T | NP_000420.1:p.Arg382Ile | |
| XM_005269842.3:c.1145G>T | XP_005269899.1:p.Arg382Ile | |
| XM_005269843.3:c.1022G>T | XP_005269900.1:p.Arg341Ile | |
| NM_000429.3:c.1145G>T MANE Select | NP_000420.1:p.Arg382Ile |