Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35651220C>A , CM000681.2:g.35651220C>A | GRCh38 |
| NC_000019.9:g.36142122C>A , CM000681.1:g.36142122C>A | GRCh37 |
| NC_000019.8:g.40833962C>A | NCBI36 |
| NG_012193.1:g.7968C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001863.5:c.-11-13C>A MANE Select | NP_001854.1:n.-11-13C>A |
| ENST00000649813.2:c.-11-13C>A MANE Select | ENSP00000497926.1:n.-11-13C>A |
| NM_001863.4:c.-11-13C>A | NP_001854.1:n.-11-13C>A |
| ENST00000246554.7:c.-11-13C>A | ENSP00000246554.2:n.-11-13C>A |
| ENST00000392201.1:c.-11-13C>A | ENSP00000376037.2:n.-11-13C>A |
| ENST00000592141.5:c.-11-13C>A | ENSP00000466818.2:n.-11-13C>A |
| ENST00000592141.6:c.-11-13C>A | ENSP00000466818.2:n.-11-13C>A |
| ENST00000652250.1:c.-24C>A | ENSP00000498883.1:n.-24C>A |