Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12291025T>C , CM000663.2:g.12291025T>C | GRCh38 |
| NC_000001.10:g.12351082T>C , CM000663.1:g.12351082T>C | GRCh37 |
| NC_000001.9:g.12273669T>C | NCBI36 |
| NG_056877.1:g.65987T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.5753T>C MANE Select | NP_056193.2:p.Ile1918Thr |
| ENST00000620676.6:c.5753T>C MANE Select | ENSP00000478104.1:p.Ile1918Thr |
| NM_015378.3:c.5753T>C | NP_056193.2:p.Ile1918Thr |
| NM_018156.3:c.5753T>C | NP_060626.2:p.Ile1918Thr |
| NM_018156.4:c.5753T>C | NP_060626.2:p.Ile1918Thr |
| ENST00000011700.10:c.2221T>C | |
| ENST00000613099.4:c.5753T>C | ENSP00000482233.1:p.Ile1918Thr |
| ENST00000620676.4:c.5753T>C | ENSP00000478104.1:p.Ile1918Thr |
| ENST00000646917.1:c.421T>C |