Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22786362G>C , CM000677.2:g.22786362G>C | GRCh38 |
| NC_000015.9:g.23086706C>G , CM000677.1:g.23086706C>G | GRCh37 |
| NC_000015.8:g.20638147C>G | NCBI36 |
| NG_009056.1:g.5138G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437912.6:c.-48+12049G>C | ENSP00000393962.2:n.-48+12049G>C | |
| ENST00000560069.5:n.31+114G>C | ||
| ENST00000561183.5:c.-48+114G>C | ENSP00000453722.1:n.-48+114G>C | |
| NM_001142275.1:c.-48+114G>C | NP_001135747.1:n.-48+114G>C |