Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401429G>C , CM000685.2:g.38401429G>C | GRCh38 |
| NC_000023.10:g.38260682G>C , CM000685.1:g.38260682G>C | GRCh37 |
| NC_000023.9:g.38145626G>C | NCBI36 |
| NG_008471.1:g.53947G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.540+1G>C MANE Select | ENSP00000039007.4:n.540+1G>C | |
| ENST00000643344.1:c.*290+1G>C | ENSP00000496606.1:n.*290+1G>C | |
| ENST00000039007.4:c.540+1G>C | ENSP00000039007.4:n.540+1G>C | |
| ENST00000465127.1:c.172-264692G>C | ENSP00000417050.1:n.172-264692G>C | |
| ENST00000488812.1:n.577+1G>C | ||
| NM_000531.5:c.540+1G>C | NP_000522.3:n.540+1G>C | |
| XM_017029556.1:c.540+1G>C | XP_016885045.1:n.540+1G>C | |
| NM_000531.6:c.540+1G>C MANE Select | NP_000522.3:n.540+1G>C |