Linked Data
dbSNP Id:
rs17506395
gnomAD v2:
3-189521319-T-G
gnomAD v3:
3-189803530-T-G
gnomAD v4:
3-189803530-T-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189803530T>G , CM000665.2:g.189803530T>G | GRCh38 |
| NC_000003.11:g.189521319T>G , CM000665.1:g.189521319T>G | GRCh37 |
| NC_000003.10:g.191004013T>G | NCBI36 |
| NG_007550.1:g.177104T>G | |
| NG_007550.2:g.177104T>G | |
| NG_007550.3:g.211785T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264731.8:c.325-4742T>G MANE Select | ENSP00000264731.3:n.325-4742T>G | |
| ENST00000354600.10:c.43-4742T>G MANE Plus Clinical | ENSP00000346614.5:n.43-4742T>G | |
| ENST00000264731.7:c.325-4742T>G | ENSP00000264731.3:n.325-4742T>G | |
| ENST00000320472.9:c.325-4742T>G | ENSP00000317510.5:n.325-4742T>G | |
| ENST00000354600.9:c.43-4742T>G | ENSP00000346614.5:n.43-4742T>G | |
| ENST00000392460.7:c.325-4742T>G | ENSP00000376253.3:n.325-4742T>G | |
| ENST00000392461.7:c.43-4742T>G | ENSP00000376254.3:n.43-4742T>G | |
| ENST00000392463.6:c.43-4742T>G | ENSP00000376256.2:n.43-4742T>G | |
| ENST00000418709.6:c.325-4742T>G | ENSP00000407144.2:n.325-4742T>G | |
| ENST00000434928.5:c.43-4742T>G | ENSP00000401661.1:n.43-4742T>G | |
| ENST00000437221.5:c.43-4742T>G | ENSP00000392488.1:n.43-4742T>G | |
| ENST00000440651.6:c.325-4742T>G | ENSP00000394337.2:n.325-4742T>G | |
| ENST00000449992.5:c.42+13688T>G | ENSP00000387839.1:n.42+13688T>G | |
| ENST00000456148.1:c.43-4742T>G | ENSP00000389485.1:n.43-4742T>G | |
| ENST00000460036.1:n.149-4742T>G | ||
| NM_001114978.1:c.325-4742T>G | NP_001108450.1:n.325-4742T>G | |
| NM_001114979.1:c.325-4742T>G | NP_001108451.1:n.325-4742T>G | |
| NM_001114980.1:c.43-4742T>G | NP_001108452.1:n.43-4742T>G | |
| NM_001114981.1:c.43-4742T>G | NP_001108453.1:n.43-4742T>G | |
| NM_001114982.1:c.43-4742T>G | NP_001108454.1:n.43-4742T>G | |
| NM_003722.4:c.325-4742T>G | NP_003713.3:n.325-4742T>G | |
| XM_005247843.2:c.325-4742T>G | XP_005247900.1:n.325-4742T>G | |
| XM_005247844.3:c.274-4742T>G | XP_005247901.1:n.274-4742T>G | |
| XM_005247846.2:c.325-4742T>G | XP_005247903.1:n.325-4742T>G | |
| XM_011513251.1:c.322-4742T>G | XP_011511553.1:n.322-4742T>G | |
| XM_011513252.1:c.319-4742T>G | XP_011511554.1:n.319-4742T>G | |
| XM_011513253.1:c.286-4742T>G | XP_011511555.1:n.286-4742T>G | |
| NM_001329144.1:c.325-4742T>G | NP_001316073.1:n.325-4742T>G | |
| NM_001329145.1:c.43-4742T>G | NP_001316074.1:n.43-4742T>G | |
| NM_001329146.1:c.42+13688T>G | NP_001316075.1:n.42+13688T>G | |
| NM_001329148.1:c.325-4742T>G | NP_001316077.1:n.325-4742T>G | |
| NM_001329149.1:c.43-4742T>G | NP_001316078.1:n.43-4742T>G | |
| NM_001329150.1:c.42+13688T>G | NP_001316079.1:n.42+13688T>G | |
| NM_001329964.1:c.319-4742T>G | NP_001316893.1:n.319-4742T>G | |
| NM_003722.5:c.325-4742T>G MANE Select | NP_003713.3:n.325-4742T>G | |
| NM_001114978.2:c.325-4742T>G | NP_001108450.1:n.325-4742T>G | |
| NM_001114979.2:c.325-4742T>G | NP_001108451.1:n.325-4742T>G | |
| NM_001114980.2:c.43-4742T>G MANE Plus Clinical | NP_001108452.1:n.43-4742T>G | |
| NM_001114981.2:c.43-4742T>G | NP_001108453.1:n.43-4742T>G | |
| NM_001114982.2:c.43-4742T>G | NP_001108454.1:n.43-4742T>G | |
| NM_001329144.2:c.325-4742T>G | NP_001316073.1:n.325-4742T>G | |
| NM_001329145.2:c.43-4742T>G | NP_001316074.1:n.43-4742T>G | |
| NM_001329146.2:c.42+13688T>G | NP_001316075.1:n.42+13688T>G | |
| NM_001329148.2:c.325-4742T>G | NP_001316077.1:n.325-4742T>G | |
| NM_001329149.2:c.43-4742T>G | NP_001316078.1:n.43-4742T>G | |
| NM_001329150.2:c.42+13688T>G | NP_001316079.1:n.42+13688T>G | |
| NM_001329964.2:c.319-4742T>G | NP_001316893.1:n.319-4742T>G |