Linked Data
ClinVar Variation Id:
56412
dbSNP Id:
rs386833856
ExAC:
2:219526031 G / T
gnomAD v2:
2-219526031-G-T
gnomAD v3:
2-218661308-G-T
gnomAD v4:
2-218661308-G-T
PubMed:
PMID:12215968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218661308G>T , CM000664.2:g.218661308G>T | GRCh38 |
| NC_000002.11:g.219526031G>T , CM000664.1:g.219526031G>T | GRCh37 |
| NC_000002.10:g.219234275G>T | NCBI36 |
| NG_008018.1:g.6653G>T , LRG_539:g.6653G>T | |
| NG_033099.1:g.3233C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359273.8:c.320+1G>T MANE Select | ENSP00000352219.3:n.320+1G>T | |
| ENST00000392111.7:c.320+1G>T | ENSP00000375959.2:n.320+1G>T | |
| ENST00000643945.1:c.320+1G>T | ENSP00000496514.1:n.320+1G>T | |
| ENST00000359273.7:c.320+1G>T | ENSP00000352219.3:n.320+1G>T | |
| ENST00000392109.5:c.320+1G>T | ENSP00000375957.1:n.320+1G>T | |
| ENST00000392110.6:c.320+1G>T | ENSP00000375958.2:n.320+1G>T | |
| ENST00000392111.6:c.320+1G>T | ENSP00000375959.2:n.320+1G>T | |
| ENST00000412366.5:c.320+1G>T | ENSP00000406494.1:n.320+1G>T | |
| ENST00000423377.5:c.320+1G>T | ENSP00000397293.1:n.320+1G>T | |
| ENST00000430322.5:c.320+1G>T | ENSP00000398957.1:n.320+1G>T | |
| ENST00000431802.5:c.320+1G>T | ENSP00000413908.1:n.320+1G>T | |
| ENST00000439945.5:c.320+1G>T | ENSP00000404999.1:n.320+1G>T | |
| ENST00000443791.5:c.-40-98G>T | ENSP00000412729.1:n.-40-98G>T | |
| ENST00000456050.5:c.320+1G>T | ENSP00000395440.1:n.320+1G>T | |
| ENST00000471576.5:n.245G>T | ||
| ENST00000493376.1:n.441+1G>T | ||
| NM_001079866.1:c.320+1G>T | NP_001073335.1:n.320+1G>T | |
| NM_001257342.1:c.320+1G>T | NP_001244271.1:n.320+1G>T | |
| NM_001257343.1:c.320+1G>T | NP_001244272.1:n.320+1G>T | |
| NM_001257344.1:c.320+1G>T , LRG_539t2:c.320+1G>T | NP_001244273.1:n.320+1G>T | |
| NM_004328.4:c.320+1G>T , LRG_539t1:c.320+1G>T | NP_004319.1:n.320+1G>T | |
| XM_005246747.3:c.320+1G>T | XP_005246804.1:n.320+1G>T | |
| XM_005246748.1:c.-157+1G>T | XP_005246805.1:n.-157+1G>T | |
| XM_005246749.3:c.-41-451G>T | XP_005246806.1:n.-41-451G>T | |
| XM_006712678.1:c.320+1G>T | XP_006712741.1:n.320+1G>T | |
| XM_011511587.1:c.320+1G>T | XP_011509889.1:n.320+1G>T | |
| XM_011511588.1:c.-40-98G>T | XP_011509890.1:n.-40-98G>T | |
| XR_427105.1:n.1262+1G>T | ||
| NM_001318836.1:c.-40-98G>T | NP_001305765.1:n.-40-98G>T | |
| NM_001320717.1:c.320+1G>T | NP_001307646.1:n.320+1G>T | |
| XM_005246748.3:c.-157+1G>T | XP_005246805.1:n.-157+1G>T | |
| XM_017004631.1:c.320+1G>T | XP_016860120.1:n.320+1G>T | |
| XM_017004632.1:c.320+1G>T | XP_016860121.1:n.320+1G>T | |
| XM_017004633.2:c.-157+1G>T | XP_016860122.1:n.-157+1G>T | |
| XM_017004634.2:c.-157+1G>T | XP_016860123.1:n.-157+1G>T | |
| XR_427105.3:n.1332+1G>T | ||
| NM_001079866.2:c.320+1G>T MANE Select | NP_001073335.1:n.320+1G>T | |
| NM_001257342.2:c.320+1G>T | NP_001244271.1:n.320+1G>T | |
| NM_001257343.2:c.320+1G>T | NP_001244272.1:n.320+1G>T | |
| NM_001257344.2:c.320+1G>T | NP_001244273.1:n.320+1G>T | |
| NM_001318836.2:c.-40-98G>T | NP_001305765.1:n.-40-98G>T | |
| NM_001320717.2:c.320+1G>T | NP_001307646.1:n.320+1G>T | |
| NM_001371443.1:c.320+1G>T | NP_001358372.1:n.320+1G>T | |
| NM_001371444.1:c.320+1G>T | NP_001358373.1:n.320+1G>T | |
| NM_001371446.1:c.320+1G>T | NP_001358375.1:n.320+1G>T | |
| NM_001371447.1:c.320+1G>T | NP_001358376.1:n.320+1G>T | |
| NM_001371448.1:c.320+1G>T | NP_001358377.1:n.320+1G>T | |
| NM_001371449.1:c.320+1G>T | NP_001358378.1:n.320+1G>T | |
| NM_001371450.1:c.320+1G>T | NP_001358379.1:n.320+1G>T | |
| NM_001371451.1:c.-40-98G>T | NP_001358380.1:n.-40-98G>T | |
| NM_001371452.1:c.-41-451G>T | NP_001358381.1:n.-41-451G>T | |
| NM_001371453.1:c.-157+1G>T | NP_001358382.1:n.-157+1G>T | |
| NM_001371454.1:c.-157+1G>T | NP_001358383.1:n.-157+1G>T | |
| NM_001371455.1:c.-157+1G>T | NP_001358384.1:n.-157+1G>T | |
| NM_001371456.1:c.-157+1G>T | NP_001358385.1:n.-157+1G>T | |
| NM_001374085.1:c.320+1G>T | NP_001361014.1:n.320+1G>T | |
| NM_001374086.1:c.-157+1G>T | NP_001361015.1:n.-157+1G>T | |
| NM_004328.5:c.320+1G>T | NP_004319.1:n.320+1G>T | |
| NR_163955.1:n.1332+1G>T |