Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20892206C>T , CM000676.2:g.20892206C>T | GRCh38 |
| NC_000014.8:g.21360365C>T , CM000676.1:g.21360365C>T | GRCh37 |
| NC_000014.7:g.20430205C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304639.4:c.*37C>T MANE Select | ENSP00000302324.3:n.*37C>T | |
| ENST00000304639.3:c.*37C>T | ENSP00000302324.3:n.*37C>T | |
| NM_002935.2:c.*37C>T | NP_002926.2:n.*37C>T | |
| XR_110261.2:n.209-16463G>A | ||
| XR_110261.3:n.726-16463G>A | ||
| NM_002935.3:c.*37C>T MANE Select | NP_002926.2:n.*37C>T |