Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008470C>T , CM000666.2:g.88008470C>T | GRCh38 |
| NC_000004.11:g.88929622C>T , CM000666.1:g.88929622C>T | GRCh37 |
| NC_000004.10:g.89148646C>T | NCBI36 |
| NG_008604.1:g.5803C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.595+142C>T MANE Select | ENSP00000237596.2:n.595+142C>T | |
| ENST00000237596.6:c.595+142C>T | ENSP00000237596.2:n.595+142C>T | |
| ENST00000506727.1:n.97+142C>T | ||
| NM_000297.3:c.595+142C>T | NP_000288.1:n.595+142C>T | |
| XM_011532028.1:c.595+142C>T | XP_011530330.1:n.595+142C>T | |
| XR_244632.2:n.690+142C>T | ||
| NR_156488.1:n.682+142C>T | ||
| XM_011532028.2:c.595+142C>T | XP_011530330.1:n.595+142C>T | |
| NM_000297.4:c.595+142C>T MANE Select | NP_000288.1:n.595+142C>T | |
| NR_156488.2:n.694+142C>T |