Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103526256G>T , CM000663.2:g.103526256G>T | GRCh38 |
| NC_000001.10:g.104068878G>T , CM000663.1:g.104068878G>T | GRCh37 |
| NC_000001.9:g.103841466G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017619.4:c.186G>T MANE Select | NP_060089.1:p.Gly62= |
| ENST00000423855.7:c.186G>T MANE Select | ENSP00000391432.1:p.Gly62= |
| NM_017619.3:c.186G>T | NP_060089.1:p.Gly62= |
| ENST00000423855.6:c.186G>T | ENSP00000391432.1:p.Gly62= |
| ENST00000524631.5:c.186G>T | ENSP00000437278.1:p.Gly62= |
| ENST00000527062.5:c.-286+433G>T | ENSP00000436315.1:n.-286+433G>T |
| ENST00000531883.5:c.186G>T | ENSP00000431344.1:p.Gly62= |
| ENST00000533099.5:c.186G>T | ENSP00000432886.1:p.Gly62= |