Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74922905C>T , CM000679.2:g.74922905C>T | GRCh38 |
| NC_000017.10:g.72919000C>T , CM000679.1:g.72919000C>T | GRCh37 |
| NC_000017.9:g.70430595C>T | NCBI36 |
| NG_007882.1:g.5352G>A | |
| NG_033062.1:g.3631C>T | |
| NG_007882.2:g.5359G>A | |
| NG_033062.2:g.3631C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173477.5:c.164+5G>A MANE Select | NP_775748.2:n.164+5G>A |
| ENST00000614341.5:c.164+5G>A MANE Select | ENSP00000480279.1:n.164+5G>A |
| NM_001282489.2:c.-93+5G>A | NP_001269418.1:n.-93+5G>A |
| NM_001282489.3:c.-93+5G>A | NP_001269418.1:n.-93+5G>A |
| NM_173477.4:c.164+5G>A | NP_775748.2:n.164+5G>A |
| ENST00000579243.1:c.164+5G>A | ENSP00000462568.1:n.164+5G>A |
| ENST00000614341.4:c.164+5G>A | ENSP00000480279.1:n.164+5G>A |