Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23211442C>T , CM000678.2:g.23211442C>T | GRCh38 |
| NC_000016.9:g.23222763C>T , CM000678.1:g.23222763C>T | GRCh37 |
| NC_000016.8:g.23130264C>T | NCBI36 |
| NG_011909.1:g.33724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300061.3:c.1177-592C>T MANE Select | ENSP00000300061.2:n.1177-592C>T | |
| ENST00000300061.2:c.1177-592C>T | ENSP00000300061.2:n.1177-592C>T | |
| NM_001039.3:c.1177-592C>T | NP_001030.2:n.1177-592C>T | |
| NM_001039.4:c.1177-592C>T MANE Select | NP_001030.2:n.1177-592C>T |