Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96896800G>A , CM000668.2:g.96896800G>A | GRCh38 |
| NC_000006.11:g.97344676G>A , CM000668.1:g.97344676G>A | GRCh37 |
| NC_000006.10:g.97451397G>A | NCBI36 |
| NG_013379.1:g.6092C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014165.4:c.184C>T MANE Select | NP_054884.1:p.Leu62= |
| ENST00000316149.8:c.184C>T MANE Select | ENSP00000358272.4:p.Leu62= |
| NM_014165.3:c.184C>T | NP_054884.1:p.Leu62= |
| ENST00000316149.7:c.184C>T | ENSP00000358272.4:p.Leu62= |
| ENST00000478382.1:n.119C>T | |
| ENST00000489477.1:n.257C>T |