Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55479575G>T , CM000678.2:g.55479575G>T | GRCh38 |
| NC_000016.9:g.55513487G>T , CM000678.1:g.55513487G>T | GRCh37 |
| NC_000016.8:g.54070988G>T | NCBI36 |
| NG_008989.1:g.5407G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004530.6:c.96G>T MANE Select | NP_004521.1:p.Ser32= |
| ENST00000219070.9:c.96G>T MANE Select | ENSP00000219070.4:p.Ser32= |
| NM_001302508.1:c.-76+610G>T | NP_001289437.1:n.-76+610G>T |
| NM_004530.5:c.96G>T | NP_004521.1:p.Ser32= |
| ENST00000219070.8:c.96G>T | ENSP00000219070.4:p.Ser32= |
| ENST00000568715.5:c.-76+610G>T | ENSP00000457949.1:n.-76+610G>T |
| ENST00000570308.5:c.-75-3334G>T | ENSP00000461421.1:n.-75-3334G>T |