Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401430T>C , CM000685.2:g.38401430T>C | GRCh38 |
| NC_000023.10:g.38260683T>C , CM000685.1:g.38260683T>C | GRCh37 |
| NC_000023.9:g.38145627T>C | NCBI36 |
| NG_008471.1:g.53948T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.540+2T>C MANE Select | NP_000522.3:n.540+2T>C |
| ENST00000039007.5:c.540+2T>C MANE Select | ENSP00000039007.4:n.540+2T>C |
| NM_000531.5:c.540+2T>C | NP_000522.3:n.540+2T>C |
| ENST00000039007.4:c.540+2T>C | ENSP00000039007.4:n.540+2T>C |
| ENST00000465127.1:c.172-264691T>C | ENSP00000417050.1:n.172-264691T>C |
| ENST00000488812.1:n.577+2T>C | |
| ENST00000643344.1:c.*290+2T>C | ENSP00000496606.1:n.*290+2T>C |
| XM_017029556.1:c.540+2T>C | XP_016885045.1:n.540+2T>C |