Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19967156C= , CM000670.2:g.19967156C= | GRCh38 |
| NC_000008.10:g.19824667C= , CM000670.1:g.19824667C= | GRCh37 |
| NC_000008.9:g.19868947C= | NCBI36 |
| NG_008855.1:g.33086C= | |
| NG_008855.2:g.70440C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.*1846C= MANE Select | NP_000228.1:n.*1846C= |
| ENST00000650287.1:c.*1846C= MANE Select | ENSP00000497642.1:n.*1846C= |
| NM_000237.2:c.*1846C= | NP_000228.1:n.*1846C= |
| ENST00000311322.8:c.*1846C= | ENSP00000309757.6:n.*1846C= |
| ENST00000650478.1:c.2214C= | ENSP00000497560.1:n.2214C= |