Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42218908G>C , CM000683.2:g.42218908G>C | GRCh38 |
| NC_000021.8:g.43639018G>C , CM000683.1:g.43639018G>C | GRCh37 |
| NC_000021.7:g.42512087G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347800.6:c.33+2720G>C | ENSP00000291524.4:n.33+2720G>C | |
| ENST00000398457.6:c.49-6763G>C | ENSP00000381475.2:n.49-6763G>C | |
| ENST00000462050.5:n.227-6763G>C | ||
| NM_207627.1:c.49-6763G>C | NP_997510.1:n.49-6763G>C | |
| NM_207628.1:c.-24-6763G>C | NP_997511.1:n.-24-6763G>C | |
| NM_207629.1:c.33+2720G>C | NP_997512.1:n.33+2720G>C | |
| XR_937748.1:n.2744+1242C>G | ||
| XR_937748.3:n.5512+1242C>G | ||
| NM_207627.2:c.49-6763G>C | NP_997510.1:n.49-6763G>C | |
| NM_207629.2:c.33+2720G>C | NP_997512.1:n.33+2720G>C |