Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103273258C>A , CM000672.2:g.103273258C>A | GRCh38 |
| NC_000010.10:g.105033015C>A , CM000672.1:g.105033015C>A | GRCh37 |
| NC_000010.9:g.105023005C>A | NCBI36 |
| NG_012318.1:g.1096C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674696.1:c.-25+2958G>T | ENSP00000502679.1:n.-25+2958G>T | |
| ENST00000675164.1:c.-123+2958G>T | ENSP00000502128.1:n.-123+2958G>T | |
| ENST00000675326.1:c.-169+3896G>T | ENSP00000502205.1:n.-169+3896G>T | |
| ENST00000676428.1:c.-118+3896G>T | ENSP00000501689.1:n.-118+3896G>T | |
| ENST00000676449.1:c.-25+3896G>T | ENSP00000502801.1:n.-25+3896G>T |