Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6839304T>C , CM000674.2:g.6839304T>C | GRCh38 |
| NC_000012.11:g.6948468T>C , CM000674.1:g.6948468T>C | GRCh37 |
| NC_000012.10:g.6818729T>C | NCBI36 |
| NG_009100.1:g.4094T>C | |
| NG_033740.1:g.15932T>C | |
| NG_009100.2:g.4094T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014262.5:c.2054T>C MANE Select | NP_055077.2:p.Ile685Thr |
| ENST00000290510.10:c.2054T>C MANE Select | ENSP00000478600.1:p.Ile685Thr |
| NM_014262.4:c.2054T>C | NP_055077.2:p.Ile685Thr |
| ENST00000290510.9:c.2054T>C | ENSP00000478600.1:p.Ile685Thr |
| ENST00000536140.5:n.2684T>C | |
| ENST00000612048.4:n.1587T>C |