Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104883T>C , CM000684.2:g.32104883T>C | GRCh38 |
| NC_000022.10:g.32500870T>C , CM000684.1:g.32500870T>C | GRCh37 |
| NC_000022.9:g.30830870T>C | NCBI36 |
| NG_017045.1:g.66852T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.1763T>C MANE Select | NP_000334.1:p.Ile588Thr |
| ENST00000266088.9:c.1763T>C MANE Select | ENSP00000266088.4:p.Ile588Thr |
| NM_000343.3:c.1763T>C | NP_000334.1:p.Ile588Thr |
| NM_001256314.1:c.1382T>C | NP_001243243.1:p.Ile461Thr |
| NM_001256314.2:c.1382T>C | NP_001243243.1:p.Ile461Thr |
| ENST00000266088.8:c.1763T>C | ENSP00000266088.4:p.Ile588Thr |
| ENST00000543737.2:c.1382T>C | ENSP00000444898.1:p.Ile461Thr |
| XR_938173.1:n.591+1955A>G | |
| XR_938174.1:n.486+14972A>G |