Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74748915A>G , CM000677.2:g.74748915A>G | GRCh38 |
| NC_000015.9:g.75041256A>G , CM000677.1:g.75041256A>G | GRCh37 |
| NC_000015.8:g.72828309A>G | NCBI36 |
| NG_008431.1:g.31374A>G | |
| NG_008431.2:g.31374A>G | |
| NG_061543.1:g.5071A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.-10+18A>G MANE Select | ENSP00000342007.4:n.-10+18A>G | |
| ENST00000343932.4:c.-10+18A>G | ENSP00000342007.4:n.-10+18A>G | |
| NM_000761.4:c.-10+18A>G | NP_000752.2:n.-10+18A>G | |
| NM_000761.5:c.-10+18A>G MANE Select | NP_000752.2:n.-10+18A>G |