Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96204884G>A , CM000676.2:g.96204884G>A | GRCh38 |
| NC_000014.8:g.96671221G>A , CM000676.1:g.96671221G>A | GRCh37 |
| NC_000014.7:g.95740974G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554311.2:c.-115G>A MANE Select | ENSP00000450482.1:n.-115G>A | |
| ENST00000539359.1:c.-357G>A | ENSP00000438376.1:n.-357G>A | |
| ENST00000542454.2:c.-2883G>A | ENSP00000439459.2:n.-2883G>A | |
| ENST00000553811.1:c.-110G>A | ENSP00000450984.1:n.-110G>A | |
| ENST00000554311.1:c.-115G>A | ENSP00000450482.1:n.-115G>A | |
| NM_000623.3:c.-110G>A | NP_000614.1:n.-110G>A | |
| NM_000623.4:c.-110G>A | NP_000614.1:n.-110G>A | |
| NM_001379692.1:c.-115G>A MANE Select | NP_001366621.1:n.-115G>A |