Linked Data
ClinVar Variation Id:
370467
ClinVar RCV Id:
RCV000409021
dbSNP Id:
rs1057516511
gnomAD v3:
11-6614687-C-T
gnomAD v4:
11-6614687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6614687C>T , CM000673.2:g.6614687C>T | GRCh38 |
| NC_000011.9:g.6635918C>T , CM000673.1:g.6635918C>T | GRCh37 |
| NC_000011.8:g.6592494C>T | NCBI36 |
| NG_008653.1:g.9775G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.1438-1G>A | ENSP00000507321.1:n.1438-1G>A | |
| ENST00000299427.12:c.1552-1G>A MANE Select | ENSP00000299427.6:n.1552-1G>A | |
| ENST00000524611.2:n.590G>A | ||
| ENST00000524924.2:n.672-1G>A | ||
| ENST00000533371.6:c.823-1G>A | ENSP00000437066.1:n.823-1G>A | |
| ENST00000642892.1:c.823-1G>A | ENSP00000494165.1:n.823-1G>A | |
| ENST00000643342.1:c.625-1G>A | ||
| ENST00000643439.1:c.*1292-1G>A | ENSP00000495849.1:n.*1292-1G>A | |
| ENST00000643479.1:n.1738-1G>A | ||
| ENST00000643516.1:c.1061-1G>A | ||
| ENST00000644218.1:c.1363-1G>A | ENSP00000493574.1:n.1363-1G>A | |
| ENST00000644683.1:c.*1005-1G>A | ENSP00000494085.1:n.*1005-1G>A | |
| ENST00000644810.1:c.1273-1G>A | ENSP00000495895.1:n.1273-1G>A | |
| ENST00000644831.1:n.1728-1G>A | ||
| ENST00000644933.1:c.*418-1G>A | ENSP00000496133.1:n.*418-1G>A | |
| ENST00000645285.1:c.*418-1G>A | ENSP00000495058.1:n.*418-1G>A | |
| ENST00000645331.1:n.2757-1G>A | ||
| ENST00000645620.1:c.823-1G>A | ENSP00000493657.1:n.823-1G>A | |
| ENST00000646691.1:n.1439-1G>A | ||
| ENST00000646777.1:n.1885-1G>A | ||
| ENST00000647016.1:n.2032-1G>A | ||
| ENST00000647152.1:c.823-1G>A | ENSP00000495893.1:n.823-1G>A | |
| ENST00000647209.1:c.*1421-1G>A | ENSP00000495558.1:n.*1421-1G>A | |
| ENST00000647346.1:n.2572-1G>A | ||
| ENST00000299427.10:c.1552-1G>A | ENSP00000299427.6:n.1552-1G>A | |
| ENST00000524611.1:n.430-1G>A | ||
| ENST00000533371.5:c.823-1G>A | ENSP00000437066.1:n.823-1G>A | |
| ENST00000611494.4:c.1552-1G>A | ENSP00000484546.1:n.1552-1G>A | |
| NM_000391.3:c.1552-1G>A | NP_000382.3:n.1552-1G>A | |
| NM_000391.4:c.1552-1G>A MANE Select | NP_000382.3:n.1552-1G>A |