Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134375547T>C , CM000671.2:g.134375547T>C | GRCh38 |
| NC_000009.11:g.137267393T>C , CM000671.1:g.137267393T>C | GRCh37 |
| NC_000009.10:g.136407214T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.29-26085T>C MANE Select | ENSP00000419692.1:n.29-26085T>C | |
| ENST00000356384.4:n.293+1417T>C | ||
| ENST00000481739.1:c.29-26085T>C | ENSP00000419692.1:n.29-26085T>C | |
| ENST00000484822.1:n.453-26085T>C | ||
| NM_002957.5:c.29-26085T>C | NP_002948.1:n.29-26085T>C | |
| NM_002957.6:c.29-26085T>C MANE Select | NP_002948.1:n.29-26085T>C |