gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946321A>T , CM000679.2:g.47946321A>T | GRCh38 |
| NC_000017.10:g.46023687A>T , CM000679.1:g.46023687A>T | GRCh37 |
| NC_000017.9:g.43378686A>T | NCBI36 |
| NG_008744.1:g.9799A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.418-2A>T | ENSP00000225573.5:n.418-2A>T | |
| ENST00000434554.7:c.493-2A>T | ENSP00000399960.3:n.493-2A>T | |
| ENST00000582171.6:c.*212-2A>T | ENSP00000463994.1:n.*212-2A>T | |
| ENST00000583599.6:c.307-2A>T | ENSP00000463919.2:n.307-2A>T | |
| ENST00000584061.6:c.478-2A>T | ENSP00000463972.2:n.478-2A>T | |
| ENST00000584806.2:n.216-2A>T | ||
| ENST00000641285.1:n.327-2A>T | ||
| ENST00000641305.1:n.2044A>T | ||
| ENST00000641323.1:c.*566-2A>T | ENSP00000492965.1:n.*566-2A>T | |
| ENST00000641427.1:n.547-2A>T | ||
| ENST00000641511.1:c.279-2A>T | ||
| ENST00000641703.1:c.263-2A>T | ENSP00000493219.1:n.263-2A>T | |
| ENST00000641709.1:c.*369-2A>T | ENSP00000493349.1:n.*369-2A>T | |
| ENST00000641856.1:c.*1055-2A>T | ENSP00000493224.1:n.*1055-2A>T | |
| ENST00000642017.2:c.547-2A>T MANE Select | ENSP00000493302.2:n.547-2A>T | |
| ENST00000225573.4:c.547-2A>T | ENSP00000225573.4:n.547-2A>T | |
| ENST00000434554.6:c.418-2A>T | ENSP00000399960.2:n.418-2A>T | |
| ENST00000582171.5:c.*212-2A>T | ENSP00000463994.1:n.*212-2A>T | |
| ENST00000583599.5:c.307-2A>T | ENSP00000463919.1:n.307-2A>T | |
| ENST00000584806.1:n.216-2A>T | ||
| ENST00000585320.5:c.*29-2A>T | ENSP00000462345.1:n.*29-2A>T | |
| NM_018129.3:c.547-2A>T | NP_060599.1:n.547-2A>T | |
| XM_005257500.2:c.307-2A>T | XP_005257557.1:n.307-2A>T | |
| XM_011524968.1:c.262-2A>T | XP_011523270.1:n.262-2A>T | |
| XM_005257500.3:c.307-2A>T | XP_005257557.1:n.307-2A>T | |
| XM_011524968.2:c.262-2A>T | XP_011523270.1:n.262-2A>T | |
| XM_017024813.1:c.307-2A>T | XP_016880302.1:n.307-2A>T | |
| NM_018129.4:c.547-2A>T MANE Select | NP_060599.1:n.547-2A>T |