Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112228149G>C , CM000674.2:g.112228149G>C | GRCh38 |
| NC_000012.11:g.112665953G>C , CM000674.1:g.112665953G>C | GRCh37 |
| NC_000012.10:g.111150336G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001388303.1:c.6794C>G MANE Select | NP_001375232.1:p.Thr2265Arg |
| ENST00000682272.1:c.6794C>G MANE Select | ENSP00000507687.1:p.Thr2265Arg |
| NM_001109662.3:c.6392C>G | NP_001103132.3:p.Thr2131Arg |
| NM_001109662.4:c.6824C>G | NP_001103132.4:p.Thr2275Arg |
| ENST00000377560.9:c.6788C>G | ENSP00000366783.7:p.Thr2263Arg |
| ENST00000547519.1:n.1228C>G | |
| ENST00000550722.5:c.6392C>G | ENSP00000449784.2:p.Thr2131Arg |
| ENST00000550968.5:n.28C>G |