Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71814055G>C , CM000677.2:g.71814055G>C | GRCh38 |
| NC_000015.9:g.72106396G>C , CM000677.1:g.72106396G>C | GRCh37 |
| NC_000015.8:g.69893450G>C | NCBI36 |
| NG_009113.2:g.8501G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.1038G>C MANE Select | NP_055064.1:p.Gln346His |
| ENST00000617575.5:c.1038G>C MANE Select | ENSP00000482504.1:p.Gln346His |
| NM_014249.3:c.1038G>C | NP_055064.1:p.Gln346His |
| NM_016346.3:c.1038G>C | NP_057430.1:p.Gln346His |
| NM_016346.4:c.1038G>C | NP_057430.1:p.Gln346His |
| ENST00000617575.4:c.1038G>C | ENSP00000482504.1:p.Gln346His |
| ENST00000621098.1:c.1038G>C | ENSP00000479962.1:p.Gln346His |
| ENST00000621736.4:c.774G>C | ENSP00000479254.1:p.Gln258His |
| XM_011521146.1:c.774G>C | XP_011519448.1:p.Gln258His |