Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4793389C>T , CM000669.2:g.4793389C>T | GRCh38 |
| NC_000007.13:g.4833020C>T , CM000669.1:g.4833020C>T | GRCh37 |
| NC_000007.12:g.4799546C>T | NCBI36 |
| NG_028111.1:g.22759C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014855.3:c.*2004C>T MANE Select | NP_055670.1:n.*2004C>T |
| ENST00000649063.2:c.*2004C>T MANE Select | ENSP00000497815.1:n.*2004C>T |
| NM_001364858.1:c.*2004C>T | NP_001351787.1:n.*2004C>T |
| NM_014855.2:c.*2004C>T | NP_055670.1:n.*2004C>T |
| NR_157345.1:n.4559C>T | |
| ENST00000496303.5:n.4737C>T | |
| ENST00000648925.1:c.*2831C>T | ENSP00000496830.1:n.*2831C>T |