Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401332G>A , CM000685.2:g.38401332G>A | GRCh38 |
| NC_000023.10:g.38260585G>A , CM000685.1:g.38260585G>A | GRCh37 |
| NC_000023.9:g.38145529G>A | NCBI36 |
| NG_008471.1:g.53850G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.444G>A MANE Select | NP_000522.3:p.Leu148= |
| ENST00000039007.5:c.444G>A MANE Select | ENSP00000039007.4:p.Leu148= |
| NM_000531.5:c.444G>A | NP_000522.3:p.Leu148= |
| ENST00000039007.4:c.444G>A | ENSP00000039007.4:p.Leu148= |
| ENST00000465127.1:c.172-264789G>A | ENSP00000417050.1:n.172-264789G>A |
| ENST00000488812.1:n.481G>A | |
| ENST00000643344.1:c.*194G>A | ENSP00000496606.1:n.*194G>A |
| XM_017029556.1:c.444G>A | XP_016885045.1:p.Leu148= |