Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148147542T= , CM000669.2:g.148147542T= | GRCh38 |
| NC_000007.13:g.147844634T= , CM000669.1:g.147844634T= | GRCh37 |
| NC_000007.12:g.147475567T= | NCBI36 |
| NG_007092.2:g.2036182T= | |
| NG_007092.3:g.2036542T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.2606T= MANE Select | NP_054860.1:p.Ile869= |
| ENST00000361727.8:c.2606T= MANE Select | ENSP00000354778.3:p.Ile869= |
| NM_014141.5:c.2606T= | NP_054860.1:p.Ile869= |
| ENST00000361727.7:c.2606T= | ENSP00000354778.3:p.Ile869= |
| ENST00000627772.2:n.779T= | |
| ENST00000628930.2:c.-218T= | ENSP00000487516.1:n.-218T= |
| ENST00000631199.2:n.335T= | |
| ENST00000636870.1:n.2468T= | |
| ENST00000637020.1:n.424T= | |
| XM_006715919.1:c.1094T= | XP_006715982.1:p.Ile365= |
| XR_928095.1:n.214+7635A= |