Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005853C>T , CM000676.2:g.75005853C>T | GRCh38 |
| NC_000014.8:g.75472556C>T , CM000676.1:g.75472556C>T | GRCh37 |
| NC_000014.7:g.74542309C>T | NCBI36 |
| NG_013333.1:g.7945C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.598-13C>T MANE Select | ENSP00000266126.5:n.598-13C>T | |
| ENST00000266126.9:c.598-13C>T | ENSP00000266126.5:n.598-13C>T | |
| ENST00000553401.5:c.583C>T | ENSP00000451681.1:p.Pro195Ser | |
| ENST00000556028.5:c.598-44C>T | ENSP00000452311.1:n.598-44C>T | |
| NM_014239.3:c.598-13C>T | NP_055054.1:n.598-13C>T | |
| NM_014239.4:c.598-13C>T MANE Select | NP_055054.1:n.598-13C>T |