Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367350A= , CM000685.2:g.38367350A= | GRCh38 |
| NC_000023.10:g.38226603A= , CM000685.1:g.38226603A= | GRCh37 |
| NC_000023.9:g.38111547A= | NCBI36 |
| NG_008471.1:g.19868A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.137A= MANE Select | NP_000522.3:p.Lys46= |
| ENST00000039007.5:c.137A= MANE Select | ENSP00000039007.4:p.Lys46= |
| NM_000531.5:c.137A= | NP_000522.3:p.Lys46= |
| ENST00000039007.4:c.137A= | ENSP00000039007.4:p.Lys46= |
| ENST00000465127.1:c.172-298771A= | ENSP00000417050.1:n.172-298771A= |
| ENST00000488812.1:n.229A= | |
| ENST00000643344.1:c.137A= | ENSP00000496606.1:p.Lys46= |
| XM_017029556.1:c.137A= | XP_016885045.1:p.Lys46= |