Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110179366A>G , CM000675.2:g.110179366A>G | GRCh38 |
| NC_000013.10:g.110831713A>G , CM000675.1:g.110831713A>G | GRCh37 |
| NC_000013.9:g.109629714A>G | NCBI36 |
| NG_011544.2:g.132784T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.2249T>C MANE Select | ENSP00000364979.4:p.Ile750Thr | |
| ENST00000649738.1:n.2379T>C | ||
| ENST00000375820.8:c.2249T>C | ENSP00000364979.4:p.Ile750Thr | |
| NM_001845.5:c.2249T>C | NP_001836.3:p.Ile750Thr | |
| XM_011521048.1:c.2057T>C | XP_011519350.1:p.Ile686Thr | |
| XM_011521048.2:c.2057T>C | XP_011519350.1:p.Ile686Thr | |
| NM_001845.6:c.2249T>C MANE Select | NP_001836.3:p.Ile750Thr |