Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18198770G>A , CM000681.2:g.18198770G>A | GRCh38 |
| NC_000019.9:g.18309580G>A , CM000681.1:g.18309580G>A | GRCh37 |
| NC_000019.8:g.18170580G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222256.9:c.427C>T MANE Select | ENSP00000222256.3:p.Arg143Trp | |
| ENST00000222256.8:c.427C>T | ENSP00000222256.3:p.Arg143Trp | |
| ENST00000464076.3:c.142C>T | ENSP00000474603.1:p.Arg48Trp | |
| NM_002866.4:c.427C>T | NP_002857.1:p.Arg143Trp | |
| XM_011528164.1:c.427C>T | XP_011526466.1:p.Arg143Trp | |
| XM_011528164.2:c.427C>T | XP_011526466.1:p.Arg143Trp | |
| NM_002866.5:c.427C>T MANE Select | NP_002857.1:p.Arg143Trp |