Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046394C>T , CM000667.2:g.136046394C>T | GRCh38 |
| NC_000005.9:g.135382083C>T , CM000667.1:g.135382083C>T | GRCh37 |
| NC_000005.8:g.135409982C>T | NCBI36 |
| NG_012646.1:g.22500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.358C>T MANE Select | ENSP00000416330.2:p.Leu120= | |
| ENST00000442011.6:c.358C>T | ENSP00000416330.2:p.Leu120= | |
| ENST00000504185.5:n.515C>T | ||
| ENST00000506699.5:n.423C>T | ||
| ENST00000507018.5:c.275C>T | ||
| ENST00000515433.1:n.650C>T | ||
| NM_000358.2:c.358C>T | NP_000349.1:p.Leu120= | |
| NM_000358.3:c.358C>T MANE Select | NP_000349.1:p.Leu120= |