Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188974519G>A , CM000664.2:g.188974519G>A | GRCh38 |
| NC_000002.11:g.189839245G>A , CM000664.1:g.189839245G>A | GRCh37 |
| NC_000002.10:g.189547490G>A | NCBI36 |
| NG_007404.1:g.5147G>A , LRG_3:g.5147G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.30G>A | ENSP00000415346.2:p.Trp10Ter | |
| ENST00000304636.9:c.30G>A MANE Select | ENSP00000304408.4:p.Trp10Ter | |
| ENST00000304636.7:c.30G>A | ENSP00000304408.3:p.Trp10Ter | |
| ENST00000317840.9:c.30G>A | ENSP00000315243.6:p.Trp10Ter | |
| ENST00000470167.1:n.126G>A | ||
| NM_000090.3:c.30G>A , LRG_3t1:c.30G>A | NP_000081.1:p.Trp10Ter | |
| XR_923687.1:n.1795-4040C>T | ||
| XR_923688.1:n.1795-4040C>T | ||
| XR_923689.1:n.90-4040C>T | ||
| XR_923689.3:n.85-4040C>T | ||
| NM_000090.4:c.30G>A MANE Select | NP_000081.2:p.Trp10Ter |