Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010187G>A , CM000664.2:g.189010187G>A | GRCh38 |
| NC_000002.11:g.189874913G>A , CM000664.1:g.189874913G>A | GRCh37 |
| NC_000002.10:g.189583158G>A | NCBI36 |
| NG_007404.1:g.40815G>A , LRG_3:g.40815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3734G>A | ENSP00000415346.2:p.Trp1245Ter | |
| ENST00000304636.9:c.3833G>A MANE Select | ENSP00000304408.4:p.Trp1278Ter | |
| ENST00000304636.7:c.3833G>A | ENSP00000304408.3:p.Trp1278Ter | |
| ENST00000317840.9:c.2924G>A | ENSP00000315243.6:p.Trp975Ter | |
| ENST00000487010.1:n.930G>A | ||
| NM_000090.3:c.3833G>A , LRG_3t1:c.3833G>A | NP_000081.1:p.Trp1278Ter | |
| NM_000090.4:c.3833G>A MANE Select | NP_000081.2:p.Trp1278Ter |