Linked Data
ClinVar Variation Id:
36535
dbSNP Id:
rs180737290
ExAC:
11:64575345 G / A
gnomAD v2:
11-64575345-G-A
gnomAD v3:
11-64807873-G-A
gnomAD v4:
11-64807873-G-A
PubMed:
PMID:20367983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64807873G>A , CM000673.2:g.64807873G>A | GRCh38 |
| NC_000011.9:g.64575345G>A , CM000673.1:g.64575345G>A | GRCh37 |
| NC_000011.8:g.64331921G>A | NCBI36 |
| NG_008929.1:g.8422C>T , LRG_509:g.8422C>T | |
| NG_033040.1:g.369C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377313.7:c.669+18C>T | ENSP00000366530.1:n.669+18C>T | |
| ENST00000394374.8:c.640+32C>T | ENSP00000377899.4:n.640+32C>T | |
| ENST00000394376.7:c.654+18C>T | ENSP00000377901.3:n.654+18C>T | |
| ENST00000413626.2:c.654+18C>T | ENSP00000411218.2:n.654+18C>T | |
| ENST00000424912.2:c.654+18C>T | ENSP00000388016.2:n.654+18C>T | |
| ENST00000429702.6:c.654+18C>T | ENSP00000402752.2:n.654+18C>T | |
| ENST00000672079.2:c.654+18C>T | ENSP00000500905.2:n.654+18C>T | |
| ENST00000710881.1:c.669+18C>T | ENSP00000518530.1:n.669+18C>T | |
| ENST00000394374.7:c.401+32C>T | ||
| ENST00000394376.6:c.5+18C>T | ||
| ENST00000478548.3:n.686+18C>T | ||
| ENST00000671939.2:n.424C>T | ||
| ENST00000671965.2:n.314+18C>T | ||
| ENST00000312049.11:c.654+18C>T | ENSP00000308975.6:n.654+18C>T | |
| ENST00000315422.9:c.654+18C>T | ENSP00000323747.4:n.654+18C>T | |
| ENST00000377313.6:c.669+18C>T | ENSP00000366530.1:n.669+18C>T | |
| ENST00000440873.6:c.654+18C>T | ENSP00000413944.2:n.654+18C>T | |
| ENST00000450708.7:c.654+18C>T MANE Select | ENSP00000394933.3:n.654+18C>T | |
| ENST00000478548.2:n.694+18C>T | ||
| ENST00000671939.1:n.739C>T | ||
| ENST00000671965.1:n.314+18C>T | ||
| ENST00000672079.1:c.380+18C>T | ||
| ENST00000672304.1:c.654+18C>T | ENSP00000500585.1:n.654+18C>T | |
| ENST00000312049.10:c.654+18C>T | ENSP00000308975.6:n.654+18C>T | |
| ENST00000315422.8:c.654+18C>T | ENSP00000323747.4:n.654+18C>T | |
| ENST00000337652.5:c.669+18C>T | ENSP00000337088.1:n.669+18C>T | |
| ENST00000377313.5:c.669+18C>T | ENSP00000366530.1:n.669+18C>T | |
| ENST00000377316.6:c.654+18C>T | ENSP00000366533.1:n.654+18C>T | |
| ENST00000377321.5:c.549+123C>T | ENSP00000366538.1:n.549+123C>T | |
| ENST00000377326.7:c.654+18C>T | ENSP00000366543.3:n.654+18C>T | |
| ENST00000394374.6:c.669+18C>T | ENSP00000377899.2:n.669+18C>T | |
| ENST00000394376.5:c.669+18C>T | ENSP00000377901.1:n.669+18C>T | |
| ENST00000413626.1:c.654+18C>T | ENSP00000411218.1:n.654+18C>T | |
| ENST00000440873.5:c.654+18C>T | ENSP00000413944.1:n.654+18C>T | |
| ENST00000450708.5:c.654+18C>T | ENSP00000394933.1:n.654+18C>T | |
| NM_000244.3:c.669+18C>T , LRG_509t1:c.669+18C>T | NP_000235.2:n.669+18C>T | |
| NM_130799.2:c.654+18C>T , LRG_509t2:c.654+18C>T | NP_570711.1:n.654+18C>T | |
| NM_130800.2:c.669+18C>T | NP_570712.1:n.669+18C>T | |
| NM_130801.2:c.669+18C>T | NP_570713.1:n.669+18C>T | |
| NM_130802.2:c.669+18C>T | NP_570714.1:n.669+18C>T | |
| NM_130803.2:c.669+18C>T | NP_570715.1:n.669+18C>T | |
| NM_130804.2:c.669+18C>T | NP_570716.1:n.669+18C>T | |
| XM_005274001.3:c.654+18C>T | XP_005274058.1:n.654+18C>T | |
| XM_011545040.1:c.654+18C>T | XP_011543342.1:n.654+18C>T | |
| XM_011545041.1:c.654+18C>T | XP_011543343.1:n.654+18C>T | |
| XM_011545042.1:c.654+18C>T | XP_011543344.1:n.654+18C>T | |
| XM_005274001.4:c.654+18C>T | XP_005274058.1:n.654+18C>T | |
| XM_011545041.2:c.654+18C>T | XP_011543343.1:n.654+18C>T | |
| XM_011545042.3:c.654+18C>T | XP_011543344.1:n.654+18C>T | |
| XM_017017765.1:c.669+18C>T | XP_016873254.1:n.669+18C>T | |
| XM_017017766.1:c.669+18C>T | XP_016873255.1:n.669+18C>T | |
| XM_017017767.2:c.669+18C>T | XP_016873256.1:n.669+18C>T | |
| XM_017017768.1:c.669+18C>T | XP_016873257.1:n.669+18C>T | |
| XM_017017769.1:c.654+18C>T | XP_016873258.1:n.654+18C>T | |
| XM_017017770.2:c.654+18C>T | XP_016873259.1:n.654+18C>T | |
| NM_001370251.1:c.654+18C>T | NP_001357180.1:n.654+18C>T | |
| NM_001370259.2:c.654+18C>T MANE Select | NP_001357188.2:n.654+18C>T | |
| NM_001370260.1:c.654+18C>T | NP_001357189.1:n.654+18C>T | |
| NM_001370261.1:c.654+18C>T | NP_001357190.1:n.654+18C>T | |
| NM_001370262.1:c.549+123C>T | NP_001357191.1:n.549+123C>T | |
| NM_001370263.1:c.549+123C>T | NP_001357192.1:n.549+123C>T | |
| NM_000244.4:c.669+18C>T | NP_000235.3:n.669+18C>T | |
| NM_001370251.2:c.654+18C>T | NP_001357180.2:n.654+18C>T | |
| NM_001370260.2:c.654+18C>T | NP_001357189.2:n.654+18C>T | |
| NM_001370261.2:c.654+18C>T | NP_001357190.2:n.654+18C>T | |
| NM_001370262.2:c.549+123C>T | NP_001357191.2:n.549+123C>T | |
| NM_001370263.2:c.549+123C>T | NP_001357192.2:n.549+123C>T | |
| NM_130799.3:c.654+18C>T | NP_570711.2:n.654+18C>T | |
| NM_130800.3:c.669+18C>T | NP_570712.2:n.669+18C>T | |
| NM_130801.3:c.669+18C>T | NP_570713.2:n.669+18C>T | |
| NM_130802.3:c.669+18C>T | NP_570714.2:n.669+18C>T | |
| NM_130803.3:c.669+18C>T | NP_570715.2:n.669+18C>T | |
| NM_130804.3:c.669+18C>T | NP_570716.2:n.669+18C>T |