Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71813635G>C , CM000677.2:g.71813635G>C | GRCh38 |
| NC_000015.9:g.72105976G>C , CM000677.1:g.72105976G>C | GRCh37 |
| NC_000015.8:g.69893030G>C | NCBI36 |
| NG_009113.2:g.8081G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.994G>C MANE Select | NP_055064.1:p.Glu332Gln |
| ENST00000617575.5:c.994G>C MANE Select | ENSP00000482504.1:p.Glu332Gln |
| NM_014249.3:c.994G>C | NP_055064.1:p.Glu332Gln |
| NM_016346.3:c.994G>C | NP_057430.1:p.Glu332Gln |
| NM_016346.4:c.994G>C | NP_057430.1:p.Glu332Gln |
| ENST00000617575.4:c.994G>C | ENSP00000482504.1:p.Glu332Gln |
| ENST00000621098.1:c.994G>C | ENSP00000479962.1:p.Glu332Gln |
| ENST00000621736.4:c.730G>C | ENSP00000479254.1:p.Glu244Gln |
| XM_011521146.1:c.730G>C | XP_011519448.1:p.Glu244Gln |