Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58708310A>C , CM000678.2:g.58708310A>C | GRCh38 |
| NC_000016.9:g.58742214A>C , CM000678.1:g.58742214A>C | GRCh37 |
| NC_000016.8:g.57299715A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245206.10:c.1171-17T>G MANE Select | ENSP00000245206.5:n.1171-17T>G | |
| ENST00000245206.9:c.1171-17T>G | ENSP00000245206.5:n.1171-17T>G | |
| ENST00000434819.2:c.1042-17T>G | ENSP00000394100.2:n.1042-17T>G | |
| NM_001286220.1:c.1042-17T>G | NP_001273149.1:n.1042-17T>G | |
| NM_002080.3:c.1171-17T>G | NP_002071.2:n.1171-17T>G | |
| NM_002080.4:c.1171-17T>G MANE Select | NP_002071.2:n.1171-17T>G | |
| NM_001286220.2:c.1042-17T>G | NP_001273149.1:n.1042-17T>G |