Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40932042C>T , CM000677.2:g.40932042C>T | GRCh38 |
| NC_000015.9:g.41224240C>T , CM000677.1:g.41224240C>T | GRCh37 |
| NC_000015.8:g.39011532C>T | NCBI36 |
| NG_046974.1:g.7710C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.659-129C>T MANE Select | ENSP00000249749.5:n.659-129C>T | |
| ENST00000249749.6:c.659-129C>T | ENSP00000249749.5:n.659-129C>T | |
| ENST00000559440.1:n.888-129C>T | ||
| NM_019074.3:c.659-129C>T | NP_061947.1:n.659-129C>T | |
| NM_019074.4:c.659-129C>T MANE Select | NP_061947.1:n.659-129C>T |