Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931897C>T , CM000677.2:g.40931897C>T | GRCh38 |
| NC_000015.9:g.41224095C>T , CM000677.1:g.41224095C>T | GRCh37 |
| NC_000015.8:g.39011387C>T | NCBI36 |
| NG_046974.1:g.7565C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.658+131C>T MANE Select | ENSP00000249749.5:n.658+131C>T | |
| ENST00000249749.6:c.658+131C>T | ENSP00000249749.5:n.658+131C>T | |
| ENST00000559440.1:n.887+131C>T | ||
| NM_019074.3:c.658+131C>T | NP_061947.1:n.658+131C>T | |
| NM_019074.4:c.658+131C>T MANE Select | NP_061947.1:n.658+131C>T |