Linked Data
ClinVar Variation Id:
291532
dbSNP Id:
rs370547604
ExAC:
1:103474085 A / G
gnomAD v2:
1-103474085-A-G
gnomAD v3:
1-103008529-A-G
gnomAD v4:
1-103008529-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103008529A>G , CM000663.2:g.103008529A>G | GRCh38 |
| NC_000001.10:g.103474085A>G , CM000663.1:g.103474085A>G | GRCh37 |
| NC_000001.9:g.103246673A>G | NCBI36 |
| NG_008033.1:g.104968T>C | |
| NG_008033.2:g.104968T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.1630-13T>C MANE Select | ENSP00000359114.3:n.1630-13T>C | |
| ENST00000461720.6:c.1783-13T>C | ENSP00000494909.1:n.1783-13T>C | |
| ENST00000644186.1:c.1630-13T>C | ENSP00000493821.1:n.1630-13T>C | |
| ENST00000645458.1:c.1630-13T>C | ENSP00000494179.1:n.1630-13T>C | |
| ENST00000647280.1:c.1630-13T>C | ENSP00000494583.1:n.1630-13T>C | |
| ENST00000353414.8:c.1513-13T>C | ENSP00000302551.6:n.1513-13T>C | |
| ENST00000358392.6:c.1666-13T>C | ENSP00000351163.2:n.1666-13T>C | |
| ENST00000370096.7:c.1630-13T>C | ENSP00000359114.3:n.1630-13T>C | |
| ENST00000427239.5:c.1666-13T>C | ENSP00000408640.1:n.1666-13T>C | |
| ENST00000512756.5:c.1282-13T>C | ENSP00000426533.1:n.1282-13T>C | |
| ENST00000635193.1:c.948-13T>C | ||
| NM_001190709.1:c.1513-13T>C | NP_001177638.1:n.1513-13T>C | |
| NM_001854.3:c.1630-13T>C | NP_001845.3:n.1630-13T>C | |
| NM_080629.2:c.1666-13T>C | NP_542196.2:n.1666-13T>C | |
| NM_080630.3:c.1282-13T>C | NP_542197.3:n.1282-13T>C | |
| XM_011540719.1:c.1630-13T>C | XP_011539021.1:n.1630-13T>C | |
| XM_011540720.1:c.-85+147T>C | XP_011539022.1:n.-85+147T>C | |
| XM_011540721.1:c.-799-13T>C | XP_011539023.1:n.-799-13T>C | |
| XR_946545.1:n.2028-13T>C | ||
| NR_134980.1:n.1948-13T>C | ||
| XM_017000334.1:c.1783-13T>C | XP_016855823.1:n.1783-13T>C | |
| XM_017000335.1:c.1777-13T>C | XP_016855824.1:n.1777-13T>C | |
| XM_017000336.1:c.1783-13T>C | XP_016855825.1:n.1783-13T>C | |
| XM_017000337.1:c.181-13T>C | XP_016855826.1:n.181-13T>C | |
| NM_001854.4:c.1630-13T>C MANE Select | NP_001845.3:n.1630-13T>C | |
| NM_080630.4:c.1282-13T>C | NP_542197.3:n.1282-13T>C | |
| NR_134980.2:n.1974-13T>C | ||
| NM_001190709.2:c.1513-13T>C | NP_001177638.1:n.1513-13T>C | |
| NM_080629.3:c.1666-13T>C | NP_542196.2:n.1666-13T>C |