Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1229353C>T , CM000673.2:g.1229353C>T | GRCh38 |
| NC_000011.9:g.1250583C>T , CM000673.1:g.1250583C>T | GRCh37 |
| NC_000011.8:g.1207159C>T | NCBI36 |
| NG_031880.1:g.11289C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002458.3:c.1102+58C>T MANE Select | NP_002449.2:n.1102+58C>T |
| ENST00000529681.5:c.1102+58C>T MANE Select | ENSP00000436812.1:n.1102+58C>T |
| NM_002458.2:c.1102+58C>T | NP_002449.2:n.1102+58C>T |
| ENST00000525715.5:n.1160+58C>T | |
| ENST00000531082.1:n.372+58C>T |