Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101087134C>G , CM000669.2:g.101087134C>G | GRCh38 |
| NC_000007.13:g.100730415C>G , CM000669.1:g.100730415C>G | GRCh37 |
| NC_000007.12:g.100517135C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030961.3:c.-36C>G MANE Select | NP_112223.1:n.-36C>G |
| ENST00000306085.11:c.-36C>G MANE Select | ENSP00000305161.6:n.-36C>G |
| NM_030961.2:c.-36C>G | NP_112223.1:n.-36C>G |
| ENST00000306085.10:c.-36C>G | ENSP00000305161.6:n.-36C>G |
| ENST00000412507.1:c.-36C>G | ENSP00000404186.1:n.-36C>G |
| ENST00000467847.1:c.-36C>G | ENSP00000486217.1:n.-36C>G |
| XM_011516589.1:c.-1-178C>G | XP_011514891.1:n.-1-178C>G |
| XM_011516589.3:c.-1-178C>G | XP_011514891.1:n.-1-178C>G |