Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45393507C>G , CM000677.2:g.45393507C>G | GRCh38 |
| NC_000015.9:g.45685705C>G , CM000677.1:g.45685705C>G | GRCh37 |
| NC_000015.8:g.43472997C>G | NCBI36 |
| NG_011674.2:g.13811G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458245.5:n.640+3415G>C | ||
| ENST00000527933.2:n.512+2660G>C | ||
| ENST00000560538.1:n.338+3415G>C | ||
| ENST00000561148.5:c.-319+3415G>C | ENSP00000453860.1:n.-319+3415G>C | |
| XM_011521450.1:c.31+3415G>C | XP_011519752.1:n.31+3415G>C | |
| NM_001321015.1:c.-395+3415G>C | NP_001307944.1:n.-395+3415G>C | |
| NM_001321015.2:c.-395+3415G>C | NP_001307944.1:n.-395+3415G>C |