Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930015C>G , CM000685.2:g.119930015C>G | GRCh38 |
| NC_000023.10:g.119063978C>G , CM000685.1:g.119063978C>G | GRCh37 |
| NC_000023.9:g.118948006C>G | NCBI36 |
| NG_021260.1:g.18758G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.1073+1G>C MANE Select | ENSP00000360464.3:n.1073+1G>C | |
| ENST00000652253.1:c.1069+1G>C | ||
| ENST00000371410.4:c.1073+1G>C | ENSP00000360464.3:n.1073+1G>C | |
| ENST00000477789.5:n.2001+1G>C | ||
| NM_024528.3:c.1073+1G>C | NP_078804.2:n.1073+1G>C | |
| XM_017029842.1:c.776+1G>C | XP_016885331.1:n.776+1G>C | |
| NM_024528.4:c.1073+1G>C MANE Select | NP_078804.2:n.1073+1G>C |