Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780567C>T , CM000672.2:g.94780567C>T | GRCh38 |
| NC_000010.10:g.96540324C>T , CM000672.1:g.96540324C>T | GRCh37 |
| NC_000010.9:g.96530314C>T | NCBI36 |
| NG_008384.2:g.22862C>T | |
| NG_008384.3:g.22887C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.550C>T MANE Select | NP_000760.1:p.Gln184Ter |
| ENST00000371321.9:c.550C>T MANE Select | ENSP00000360372.3:p.Gln184Ter |
| NM_000769.2:c.550C>T | NP_000760.1:p.Gln184Ter |
| ENST00000371321.7:c.550C>T | ENSP00000360372.3:p.Gln184Ter |
| ENST00000464755.1:c.1313C>T | ENSP00000483243.1:n.1313C>T |
| ENST00000645461.1:n.1603C>T |