Linked Data
dbSNP Id:
rs1479279407
gnomAD v2:
17-19552093-T-G
gnomAD v3:
17-19648780-T-G
gnomAD v4:
17-19648780-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19648780T>G , CM000679.2:g.19648780T>G | GRCh38 |
| NC_000017.10:g.19552093T>G , CM000679.1:g.19552093T>G | GRCh37 |
| NC_000017.9:g.19492685T>G | NCBI36 |
| NG_007095.2:g.5030T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.-192T>G MANE Select | ENSP00000176643.6:n.-192T>G | |
| ENST00000467473.6:n.87-155T>G | ||
| ENST00000581518.6:c.-37-155T>G | ENSP00000461916.2:n.-37-155T>G | |
| ENST00000672357.1:c.-101T>G | ENSP00000500092.1:n.-101T>G | |
| ENST00000672465.1:c.-37-155T>G | ENSP00000500517.1:n.-37-155T>G | |
| ENST00000672564.1:n.30T>G | ||
| ENST00000673136.1:c.-37-155T>G | ENSP00000500380.1:n.-37-155T>G | |
| ENST00000176643.10:c.-192T>G | ENSP00000176643.6:n.-192T>G | |
| ENST00000339618.8:c.-192T>G | ENSP00000345774.4:n.-192T>G | |
| ENST00000395575.6:c.-101T>G | ENSP00000378942.2:n.-101T>G | |
| ENST00000446398.6:c.-37-155T>G | ENSP00000395845.2:n.-37-155T>G | |
| ENST00000467473.5:n.121-155T>G | ||
| ENST00000578614.1:c.-192T>G | ENSP00000463128.1:n.-192T>G | |
| ENST00000579855.5:c.-70T>G | ENSP00000463637.1:n.-70T>G | |
| ENST00000580550.5:c.-9-183T>G | ENSP00000462964.1:n.-9-183T>G | |
| ENST00000581518.5:c.-192T>G | ENSP00000461916.1:n.-192T>G | |
| ENST00000582991.5:c.-192T>G | ENSP00000464153.1:n.-192T>G | |
| ENST00000584332.6:c.-164T>G | ENSP00000466814.1:n.-164T>G | |
| ENST00000626500.2:c.-192T>G | ENSP00000486283.1:n.-192T>G | |
| ENST00000631291.2:c.-192T>G | ENSP00000486085.1:n.-192T>G | |
| NM_000382.2:c.-192T>G | NP_000373.1:n.-192T>G | |
| NM_001031806.1:c.-192T>G | NP_001026976.1:n.-192T>G | |
| XM_011523732.1:c.-101T>G | XP_011522034.1:n.-101T>G | |
| XM_011523733.1:c.-37-155T>G | XP_011522035.1:n.-37-155T>G | |
| XM_011523733.2:c.-37-155T>G | XP_011522035.1:n.-37-155T>G | |
| XM_017024356.2:c.-37-155T>G | XP_016879845.1:n.-37-155T>G | |
| XM_017024357.1:c.-101T>G | XP_016879846.1:n.-101T>G | |
| XM_017024358.2:c.-37-155T>G | XP_016879847.1:n.-37-155T>G | |
| XM_024450652.1:c.-725-155T>G | XP_024306420.1:n.-725-155T>G | |
| NM_000382.3:c.-192T>G MANE Select | NP_000373.1:n.-192T>G | |
| NM_001031806.2:c.-192T>G | NP_001026976.1:n.-192T>G | |
| NM_001369136.1:c.-101T>G | NP_001356065.1:n.-101T>G | |
| NM_001369137.1:c.-37-155T>G | NP_001356066.1:n.-37-155T>G | |
| NM_001369138.1:c.-37-155T>G | NP_001356067.1:n.-37-155T>G | |
| NM_001369139.1:c.-101T>G | NP_001356068.1:n.-101T>G | |
| NM_001369146.1:c.-37-155T>G | NP_001356075.1:n.-37-155T>G | |
| NM_001369148.1:c.-725-155T>G | NP_001356077.1:n.-725-155T>G | |
| NM_001369137.2:c.-37-155T>G | NP_001356066.1:n.-37-155T>G | |
| NM_001369138.2:c.-37-155T>G | NP_001356067.1:n.-37-155T>G | |
| NM_001369146.2:c.-37-155T>G | NP_001356075.1:n.-37-155T>G | |
| NM_001369148.2:c.-725-155T>G | NP_001356077.1:n.-725-155T>G |