Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38369878G= , CM000685.2:g.38369878G= | GRCh38 |
| NC_000023.10:g.38229131G= , CM000685.1:g.38229131G= | GRCh37 |
| NC_000023.9:g.38114075G= | NCBI36 |
| NG_008471.1:g.22396G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.298+1G= MANE Select | NP_000522.3:n.298+1G= |
| ENST00000039007.5:c.298+1G= MANE Select | ENSP00000039007.4:n.298+1G= |
| NM_000531.5:c.298+1G= | NP_000522.3:n.298+1G= |
| ENST00000039007.4:c.298+1G= | ENSP00000039007.4:n.298+1G= |
| ENST00000465127.1:c.172-296243G= | ENSP00000417050.1:n.172-296243G= |
| ENST00000488812.1:n.353+38G= | |
| ENST00000643344.1:c.298+1G= | ENSP00000496606.1:n.298+1G= |
| XM_017029556.1:c.298+1G= | XP_016885045.1:n.298+1G= |