Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42218937G>A , CM000683.2:g.42218937G>A | GRCh38 |
| NC_000021.8:g.43639047G>A , CM000683.1:g.43639047G>A | GRCh37 |
| NC_000021.7:g.42512116G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347800.6:c.33+2749G>A | ENSP00000291524.4:n.33+2749G>A | |
| ENST00000398457.6:c.49-6734G>A | ENSP00000381475.2:n.49-6734G>A | |
| ENST00000462050.5:n.227-6734G>A | ||
| NM_207627.1:c.49-6734G>A | NP_997510.1:n.49-6734G>A | |
| NM_207628.1:c.-24-6734G>A | NP_997511.1:n.-24-6734G>A | |
| NM_207629.1:c.33+2749G>A | NP_997512.1:n.33+2749G>A | |
| XR_937748.1:n.2744+1213C>T | ||
| XR_937748.3:n.5512+1213C>T | ||
| NM_207627.2:c.49-6734G>A | NP_997510.1:n.49-6734G>A | |
| NM_207629.2:c.33+2749G>A | NP_997512.1:n.33+2749G>A |