Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189005428G= , CM000664.2:g.189005428G= | GRCh38 |
| NC_000002.11:g.189870154G= , CM000664.1:g.189870154G= | GRCh37 |
| NC_000002.10:g.189578399G= | NCBI36 |
| NG_007404.1:g.36056G= , LRG_3:g.36056G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2911G= | ENSP00000415346.2:p.Ala971= | |
| ENST00000304636.9:c.3010G= MANE Select | ENSP00000304408.4:p.Ala1004= | |
| ENST00000304636.7:c.3010G= | ENSP00000304408.3:p.Ala1004= | |
| ENST00000317840.9:c.2527+2392G= | ENSP00000315243.6:n.2527+2392G= | |
| NM_000090.3:c.3010G= , LRG_3t1:c.3010G= | NP_000081.1:p.Ala1004= | |
| NM_000090.4:c.3010G= MANE Select | NP_000081.2:p.Ala1004= |