Linked Data
dbSNP Id:
rs1467465
gnomAD v2:
1-28211403-A-G
gnomAD v3:
1-27884892-A-G
gnomAD v4:
1-27884892-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27884892A>G , CM000663.2:g.27884892A>G | GRCh38 |
| NC_000001.10:g.28211403A>G , CM000663.1:g.28211403A>G | GRCh37 |
| NC_000001.9:g.28083990A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373921.8:c.1720-403A>G MANE Select | ENSP00000363031.3:n.1720-403A>G | |
| ENST00000328928.11:c.1333-403A>G | ENSP00000329862.7:n.1333-403A>G | |
| ENST00000373921.7:c.1720-403A>G | ENSP00000363031.3:n.1720-403A>G | |
| ENST00000373925.5:c.647-403A>G | ENSP00000363035.1:n.647-403A>G | |
| ENST00000373927.7:c.236-403A>G | ENSP00000363037.3:n.236-403A>G | |
| ENST00000456990.1:c.963-403A>G | ||
| ENST00000467258.1:n.640-403A>G | ||
| ENST00000492877.1:n.1495A>G | ||
| NM_001039477.2:c.236-403A>G | NP_001034566.1:n.236-403A>G | |
| NM_001105556.2:c.1720-403A>G | NP_001099026.1:n.1720-403A>G | |
| NM_001286113.1:c.1333-403A>G | NP_001273042.1:n.1333-403A>G | |
| NM_001286115.1:c.1132-403A>G | NP_001273044.1:n.1132-403A>G | |
| NM_004848.3:c.647-403A>G | NP_004839.2:n.647-403A>G | |
| XM_005246041.2:c.1309-403A>G | XP_005246098.1:n.1309-403A>G | |
| XM_006711050.1:c.1285-403A>G | XP_006711113.1:n.1285-403A>G | |
| XM_011542445.1:c.1579-403A>G | XP_011540747.1:n.1579-403A>G | |
| XM_005246041.3:c.1309-403A>G | XP_005246098.1:n.1309-403A>G | |
| XM_011542445.2:c.1579-403A>G | XP_011540747.1:n.1579-403A>G | |
| NM_001105556.3:c.1720-403A>G MANE Select | NP_001099026.1:n.1720-403A>G | |
| NM_001039477.3:c.236-403A>G | NP_001034566.1:n.236-403A>G | |
| NM_001286113.2:c.1333-403A>G | NP_001273042.1:n.1333-403A>G | |
| NM_001286115.2:c.1132-403A>G | NP_001273044.1:n.1132-403A>G | |
| NM_004848.4:c.647-403A>G | NP_004839.2:n.647-403A>G |