Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55479478C>A , CM000678.2:g.55479478C>A | GRCh38 |
| NC_000016.9:g.55513390C>A , CM000678.1:g.55513390C>A | GRCh37 |
| NC_000016.8:g.54070891C>A | NCBI36 |
| NG_008989.1:g.5310C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004530.6:c.-2C>A MANE Select | NP_004521.1:n.-2C>A |
| ENST00000219070.9:c.-2C>A MANE Select | ENSP00000219070.4:n.-2C>A |
| NM_001302508.1:c.-76+513C>A | NP_001289437.1:n.-76+513C>A |
| NM_004530.5:c.-2C>A | NP_004521.1:n.-2C>A |
| ENST00000219070.8:c.-2C>A | ENSP00000219070.4:n.-2C>A |
| ENST00000568715.5:c.-76+513C>A | ENSP00000457949.1:n.-76+513C>A |
| ENST00000570308.5:c.-75-3431C>A | ENSP00000461421.1:n.-75-3431C>A |