Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411906G= , CM000685.2:g.38411906G= | GRCh38 |
| NC_000023.10:g.38271159G= , CM000685.1:g.38271159G= | GRCh37 |
| NC_000023.9:g.38156103G= | NCBI36 |
| NG_008471.1:g.64424G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.912G= MANE Select | NP_000522.3:p.Leu304= |
| ENST00000039007.5:c.912G= MANE Select | ENSP00000039007.4:p.Leu304= |
| NM_000531.5:c.912G= | NP_000522.3:p.Leu304= |
| ENST00000039007.4:c.912G= | ENSP00000039007.4:p.Leu304= |
| ENST00000465127.1:c.172-254215G= | ENSP00000417050.1:n.172-254215G= |
| ENST00000643344.1:c.*662G= | ENSP00000496606.1:n.*662G= |