Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94842866A>C , CM000672.2:g.94842866A>C | GRCh38 |
| NG_008384.2:g.85161A>C | |
| NG_008384.3:g.85186A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.991A>C MANE Select | NP_000760.1:p.Ile331Leu |
| ENST00000371321.9:c.991A>C MANE Select | ENSP00000360372.3:p.Ile331Leu |
| NM_000769.2:c.991A>C | NP_000760.1:p.Ile331Leu |
| ENST00000371321.7:c.991A>C | ENSP00000360372.3:p.Ile331Leu |
| ENST00000464755.1:c.1754A>C | ENSP00000483243.1:n.1754A>C |
| ENST00000645461.1:n.1902A>C |