Linked Data
ClinVar Variation Id:
1197843
ClinVar RCV Id:
RCV001561802
dbSNP Id:
rs748156385
ExAC:
11:6638387 G / A
gnomAD v2:
11-6638387-G-A
gnomAD v3:
11-6617156-G-A
gnomAD v4:
11-6617156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617156G>A , CM000673.2:g.6617156G>A | GRCh38 |
| NC_000011.9:g.6638387G>A , CM000673.1:g.6638387G>A | GRCh37 |
| NC_000011.8:g.6594963G>A | NCBI36 |
| NG_008653.1:g.7306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.395-3C>T | ENSP00000507321.1:n.395-3C>T | |
| ENST00000299427.12:c.509-3C>T MANE Select | ENSP00000299427.6:n.509-3C>T | |
| ENST00000428886.7:n.741C>T | ||
| ENST00000436873.7:c.312+145C>T | ||
| ENST00000524788.2:n.1665C>T | ||
| ENST00000524903.2:n.1781C>T | ||
| ENST00000528807.2:n.165-3C>T | ||
| ENST00000530040.2:n.479+203C>T | ||
| ENST00000533371.6:c.-221-3C>T | ENSP00000437066.1:n.-221-3C>T | |
| ENST00000534644.6:n.457-3C>T | ||
| ENST00000642892.1:c.-221-3C>T | ENSP00000494165.1:n.-221-3C>T | |
| ENST00000643439.1:c.*249-3C>T | ENSP00000495849.1:n.*249-3C>T | |
| ENST00000643479.1:n.538-3C>T | ||
| ENST00000643516.1:c.395+145C>T | ||
| ENST00000644151.1:n.1945C>T | ||
| ENST00000644218.1:c.509-3C>T | ENSP00000493574.1:n.509-3C>T | |
| ENST00000644683.1:c.451-3C>T | ENSP00000494085.1:n.451-3C>T | |
| ENST00000644810.1:c.230-3C>T | ENSP00000495895.1:n.230-3C>T | |
| ENST00000644831.1:n.682C>T | ||
| ENST00000644933.1:c.-221-3C>T | ENSP00000496133.1:n.-221-3C>T | |
| ENST00000645020.1:n.1681C>T | ||
| ENST00000645285.1:c.-221-3C>T | ENSP00000495058.1:n.-221-3C>T | |
| ENST00000645331.1:n.872C>T | ||
| ENST00000645620.1:c.-221-3C>T | ENSP00000493657.1:n.-221-3C>T | |
| ENST00000646777.1:n.682C>T | ||
| ENST00000647016.1:n.986C>T | ||
| ENST00000647152.1:c.-221-3C>T | ENSP00000495893.1:n.-221-3C>T | |
| ENST00000647209.1:c.*378-3C>T | ENSP00000495558.1:n.*378-3C>T | |
| ENST00000647346.1:n.1529-3C>T | ||
| ENST00000299427.10:c.509-3C>T | ENSP00000299427.6:n.509-3C>T | |
| ENST00000428886.6:n.675C>T | ||
| ENST00000436873.6:c.450+203C>T | ENSP00000398136.2:n.450+203C>T | |
| ENST00000524788.1:n.206C>T | ||
| ENST00000528571.5:c.*249-3C>T | ENSP00000434647.1:n.*249-3C>T | |
| ENST00000528807.1:n.56C>T | ||
| ENST00000533371.5:c.-221-3C>T | ENSP00000437066.1:n.-221-3C>T | |
| ENST00000534644.5:n.494-3C>T | ||
| ENST00000611494.4:c.509-3C>T | ENSP00000484546.1:n.509-3C>T | |
| NM_000391.3:c.509-3C>T | NP_000382.3:n.509-3C>T | |
| NM_000391.4:c.509-3C>T MANE Select | NP_000382.3:n.509-3C>T |