Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564896G>A , CM000684.2:g.36564896G>A | GRCh38 |
| NC_000022.10:g.36960943G>A , CM000684.1:g.36960943G>A | GRCh37 |
| NC_000022.9:g.35290889G>A | NCBI36 |
| NG_031861.1:g.142748C>T | |
| NG_031861.2:g.142963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.437-10C>T MANE Select | ENSP00000300105.6:n.437-10C>T | |
| ENST00000300105.6:c.437-10C>T | ENSP00000300105.6:n.437-10C>T | |
| NM_006078.3:c.437-10C>T | NP_006069.1:n.437-10C>T | |
| NM_006078.4:c.437-10C>T | NP_006069.1:n.437-10C>T | |
| XM_017028531.2:c.179-10C>T | XP_016884020.1:n.179-10C>T | |
| NM_001379051.1:c.368-10C>T | NP_001365980.1:n.368-10C>T | |
| NM_006078.5:c.437-10C>T MANE Select | NP_006069.1:n.437-10C>T | |
| NR_166440.1:n.1803-10C>T |