Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408796G>A , CM000685.2:g.38408796G>A | GRCh38 |
| NC_000023.10:g.38268049G>A , CM000685.1:g.38268049G>A | GRCh37 |
| NC_000023.9:g.38152993G>A | NCBI36 |
| NG_008471.1:g.61314G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.717+1G>A MANE Select | NP_000522.3:n.717+1G>A |
| ENST00000039007.5:c.717+1G>A MANE Select | ENSP00000039007.4:n.717+1G>A |
| NM_000531.5:c.717+1G>A | NP_000522.3:n.717+1G>A |
| ENST00000039007.4:c.717+1G>A | ENSP00000039007.4:n.717+1G>A |
| ENST00000465127.1:c.172-257325G>A | ENSP00000417050.1:n.172-257325G>A |
| ENST00000643344.1:c.*467+1G>A | ENSP00000496606.1:n.*467+1G>A |
| XM_017029556.1:c.717+1G>A | XP_016885045.1:n.717+1G>A |