Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010187G= , CM000664.2:g.189010187G= | GRCh38 |
| NC_000002.11:g.189874913G= , CM000664.1:g.189874913G= | GRCh37 |
| NC_000002.10:g.189583158G= | NCBI36 |
| NG_007404.1:g.40815G= , LRG_3:g.40815G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3734G= | ENSP00000415346.2:p.Trp1245= | |
| ENST00000304636.9:c.3833G= MANE Select | ENSP00000304408.4:p.Trp1278= | |
| ENST00000304636.7:c.3833G= | ENSP00000304408.3:p.Trp1278= | |
| ENST00000317840.9:c.2924G= | ENSP00000315243.6:p.Trp975= | |
| ENST00000487010.1:n.930G= | ||
| NM_000090.3:c.3833G= , LRG_3t1:c.3833G= | NP_000081.1:p.Trp1278= | |
| NM_000090.4:c.3833G= MANE Select | NP_000081.2:p.Trp1278= |