Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4793055G>C , CM000669.2:g.4793055G>C | GRCh38 |
| NC_000007.13:g.4832686G>C , CM000669.1:g.4832686G>C | GRCh37 |
| NC_000007.12:g.4799212G>C | NCBI36 |
| NG_028111.1:g.22425G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014855.3:c.*1670G>C MANE Select | NP_055670.1:n.*1670G>C |
| ENST00000649063.2:c.*1670G>C MANE Select | ENSP00000497815.1:n.*1670G>C |
| NM_001364858.1:c.*1670G>C | NP_001351787.1:n.*1670G>C |
| NM_014855.2:c.*1670G>C | NP_055670.1:n.*1670G>C |
| NR_157345.1:n.4225G>C | |
| ENST00000496303.5:n.4403G>C | |
| ENST00000648925.1:c.*2497G>C | ENSP00000496830.1:n.*2497G>C |
| ENST00000656625.1:n.73C>G |