Linked Data
dbSNP Id:
rs3218255
gnomAD v2:
22-37544486-G-A
gnomAD v3:
22-37148446-G-A
gnomAD v4:
22-37148446-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37148446G>A , CM000684.2:g.37148446G>A | GRCh38 |
| NC_000022.10:g.37544486G>A , CM000684.1:g.37544486G>A | GRCh37 |
| NC_000022.9:g.35874432G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429622.6:c.-33-4241C>T | ENSP00000402685.2:n.-33-4241C>T | |
| ENST00000445595.2:c.-33-4241C>T | ENSP00000401020.2:n.-33-4241C>T | |
| ENST00000453962.6:c.-33-4241C>T | ENSP00000403731.2:n.-33-4241C>T | |
| ENST00000698883.1:c.-33-4241C>T | ENSP00000514005.1:n.-33-4241C>T | |
| ENST00000698891.1:c.-34+1379C>T | ENSP00000514010.1:n.-34+1379C>T | |
| ENST00000698892.1:c.-33-4241C>T | ENSP00000514011.1:n.-33-4241C>T | |
| ENST00000698893.1:c.-33-4241C>T | ENSP00000514012.1:n.-33-4241C>T | |
| ENST00000698894.1:c.-34+1379C>T | ENSP00000514013.1:n.-34+1379C>T | |
| ENST00000698895.1:c.-34+1379C>T | ENSP00000514014.1:n.-34+1379C>T | |
| ENST00000698898.1:n.73+1379C>T | ||
| ENST00000698902.1:c.-34+1379C>T | ENSP00000514017.1:n.-34+1379C>T | |
| ENST00000698903.1:c.-34+1379C>T | ENSP00000514018.1:n.-34+1379C>T | |
| ENST00000698904.1:c.-34+1379C>T | ENSP00000514019.1:n.-34+1379C>T | |
| ENST00000698905.1:c.-34+1379C>T | ENSP00000514020.1:n.-34+1379C>T | |
| ENST00000703410.1:c.-34+1379C>T | ENSP00000516411.1:n.-34+1379C>T | |
| ENST00000216223.10:c.-34+1379C>T MANE Select | ENSP00000216223.5:n.-34+1379C>T | |
| ENST00000216223.9:c.-34+1379C>T | ENSP00000216223.5:n.-34+1379C>T | |
| ENST00000429622.5:c.-33-4241C>T | ENSP00000402685.1:n.-33-4241C>T | |
| ENST00000445595.1:c.-33-4241C>T | ENSP00000401020.1:n.-33-4241C>T | |
| ENST00000453962.5:c.-33-4241C>T | ENSP00000403731.1:n.-33-4241C>T | |
| ENST00000461607.5:n.98-4241C>T | ||
| NM_000878.3:c.-34+1379C>T | NP_000869.1:n.-34+1379C>T | |
| NM_000878.4:c.-34+1379C>T | NP_000869.1:n.-34+1379C>T | |
| NM_001346222.1:c.-33-4241C>T | NP_001333151.1:n.-33-4241C>T | |
| NM_001346223.1:c.-33-4241C>T | NP_001333152.1:n.-33-4241C>T | |
| NM_000878.5:c.-34+1379C>T MANE Select | NP_000869.1:n.-34+1379C>T | |
| NM_001346223.2:c.-33-4241C>T | NP_001333152.1:n.-33-4241C>T |