Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085049C>T , CM000684.2:g.17085049C>T | GRCh38 |
| NC_000022.10:g.17565939C>T , CM000684.1:g.17565939C>T | GRCh37 |
| NC_000022.9:g.15945939C>T | NCBI36 |
| NG_028257.1:g.5089C>T , LRG_355:g.5089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000694948.1:n.56C>T | ||
| ENST00000694949.1:n.53C>T | ||
| ENST00000694950.1:c.38C>T | ||
| ENST00000319363.11:c.-43C>T MANE Select | ENSP00000320936.6:n.-43C>T | |
| ENST00000319363.10:c.-43C>T | ENSP00000320936.6:n.-43C>T | |
| ENST00000477874.1:n.96C>T | ||
| ENST00000612619.1:c.-43C>T | ENSP00000479970.1:n.-43C>T | |
| NM_001289905.1:c.-43C>T | NP_001276834.1:n.-43C>T | |
| NM_014339.6:c.-43C>T , LRG_355t1:c.-43C>T | NP_055154.3:n.-43C>T | |
| NM_014339.7:c.-43C>T MANE Select | NP_055154.3:n.-43C>T | |
| NM_001289905.2:c.-43C>T | NP_001276834.1:n.-43C>T |