Linked Data
dbSNP Id:
rs769307076
gnomAD v2:
22-37551678-C-A
gnomAD v3:
22-37155638-C-A
gnomAD v4:
22-37155638-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37155638C>A , CM000684.2:g.37155638C>A | GRCh38 |
| NC_000022.10:g.37551678C>A , CM000684.1:g.37551678C>A | GRCh37 |
| NC_000022.9:g.35881624C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429622.6:c.-33-11433G>T | ENSP00000402685.2:n.-33-11433G>T | |
| ENST00000445595.2:c.-34+6155G>T | ENSP00000401020.2:n.-34+6155G>T | |
| ENST00000453962.6:c.-33-11433G>T | ENSP00000403731.2:n.-33-11433G>T | |
| ENST00000698883.1:c.-34+637G>T | ENSP00000514005.1:n.-34+637G>T | |
| ENST00000698892.1:c.-34+637G>T | ENSP00000514011.1:n.-34+637G>T | |
| ENST00000698893.1:c.-34+637G>T | ENSP00000514012.1:n.-34+637G>T | |
| ENST00000429622.5:c.-33-11433G>T | ENSP00000402685.1:n.-33-11433G>T | |
| ENST00000445595.1:c.-34+6155G>T | ENSP00000401020.1:n.-34+6155G>T | |
| ENST00000453962.5:c.-33-11433G>T | ENSP00000403731.1:n.-33-11433G>T | |
| ENST00000461607.5:n.98-11433G>T | ||
| NM_001346222.1:c.-33-11433G>T | NP_001333151.1:n.-33-11433G>T | |
| NM_001346223.1:c.-33-11433G>T | NP_001333152.1:n.-33-11433G>T | |
| NM_001346223.2:c.-33-11433G>T | NP_001333152.1:n.-33-11433G>T |