Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119409865T>A , CM000665.2:g.119409865T>A | GRCh38 |
| NC_000003.11:g.119128712T>A , CM000665.1:g.119128712T>A | GRCh37 |
| NC_000003.10:g.120611402T>A | NCBI36 |
| NG_007665.2:g.120493T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1926+89T>A MANE Select | ENSP00000264245.4:n.1926+89T>A | |
| ENST00000264245.8:c.1926+89T>A | ENSP00000264245.4:n.1926+89T>A | |
| NM_020754.3:c.1926+89T>A | NP_065805.2:n.1926+89T>A | |
| XM_005247671.3:c.1833+89T>A | XP_005247728.1:n.1833+89T>A | |
| XM_006713714.2:c.1866+89T>A | XP_006713777.1:n.1866+89T>A | |
| XM_006713714.3:c.1866+89T>A | XP_006713777.1:n.1866+89T>A | |
| XM_017006955.1:c.1434+89T>A | XP_016862444.1:n.1434+89T>A | |
| NM_020754.4:c.1926+89T>A MANE Select | NP_065805.2:n.1926+89T>A |