Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119661996C>T , CM000673.2:g.119661996C>T | GRCh38 |
| NC_000011.9:g.119532706C>T , CM000673.1:g.119532706C>T | GRCh37 |
| NC_000011.8:g.119037916C>T | NCBI36 |
| NG_013083.1:g.71730G>A | |
| NG_013083.2:g.71730G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002855.5:c.*2751G>A MANE Select | NP_002846.3:n.*2751G>A |
| ENST00000264025.8:c.*2751G>A MANE Select | ENSP00000264025.3:n.*2751G>A |
| NM_002855.4:c.*2751G>A | NP_002846.3:n.*2751G>A |
| NM_203285.1:c.1003+13163G>A | NP_976030.1:n.1003+13163G>A |
| NM_203285.2:c.1003+13163G>A | NP_976030.1:n.1003+13163G>A |
| ENST00000264025.7:c.*2751G>A | ENSP00000264025.3:n.*2751G>A |
| ENST00000341398.6:c.1003+13163G>A | ENSP00000344974.2:n.1003+13163G>A |
| ENST00000531468.2:c.1003+13163G>A | ENSP00000513010.1:n.1003+13163G>A |