Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762804C>T , CM000672.2:g.94762804C>T | GRCh38 |
| NG_008384.2:g.5099C>T | |
| NG_008384.3:g.5124C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.99C>T MANE Select | NP_000760.1:p.Pro33= |
| ENST00000371321.9:c.99C>T MANE Select | ENSP00000360372.3:p.Pro33= |
| NM_000769.2:c.99C>T | NP_000760.1:p.Pro33= |
| ENST00000371321.7:c.99C>T | ENSP00000360372.3:p.Pro33= |
| ENST00000464755.1:c.932-12254C>T | ENSP00000483243.1:n.932-12254C>T |
| ENST00000480405.2:c.99C>T | ENSP00000483847.1:p.Pro33= |