Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2304132C>T , CM000678.2:g.2304132C>T | GRCh38 |
| NC_000016.9:g.2354133C>T , CM000678.1:g.2354133C>T | GRCh37 |
| NC_000016.8:g.2294134C>T | NCBI36 |
| NG_011790.1:g.41615G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.1304G>A MANE Select | NP_001080.2:p.Arg435Gln |
| ENST00000301732.10:c.1304G>A MANE Select | ENSP00000301732.5:p.Arg435Gln |
| NM_001089.2:c.1304G>A | NP_001080.2:p.Arg435Gln |
| ENST00000301732.9:c.1304G>A | ENSP00000301732.5:p.Arg435Gln |
| ENST00000382381.7:c.1130G>A | ENSP00000371818.3:p.Arg377Gln |
| ENST00000563623.5:n.1867G>A |