Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411990G= , CM000685.2:g.38411990G= | GRCh38 |
| NC_000023.10:g.38271243G= , CM000685.1:g.38271243G= | GRCh37 |
| NC_000023.9:g.38156187G= | NCBI36 |
| NG_008471.1:g.64508G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.996G= MANE Select | ENSP00000039007.4:p.Trp332= | |
| ENST00000643344.1:c.*746G= | ENSP00000496606.1:n.*746G= | |
| ENST00000039007.4:c.996G= | ENSP00000039007.4:p.Trp332= | |
| ENST00000465127.1:c.172-254131G= | ENSP00000417050.1:n.172-254131G= | |
| NM_000531.5:c.996G= | NP_000522.3:p.Trp332= | |
| NM_000531.6:c.996G= MANE Select | NP_000522.3:p.Trp332= |