Linked Data
ClinVar Variation Id:
1241237
ClinVar RCV Id:
RCV001643720
dbSNP Id:
rs144568643
ExAC:
11:110104222 G / A
gnomAD v2:
11-110104222-G-A
gnomAD v3:
11-110233497-G-A
gnomAD v4:
11-110233497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110233497G>A , CM000673.2:g.110233497G>A | GRCh38 |
| NC_000011.9:g.110104222G>A , CM000673.1:g.110104222G>A | GRCh37 |
| NC_000011.8:g.109609432G>A | NCBI36 |
| NG_023044.1:g.68216C>T | |
| NG_023044.2:g.68216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645495.2:c.1345-18C>T MANE Select | ENSP00000496503.2:n.1345-18C>T | |
| ENST00000645527.1:c.1345-18C>T | ENSP00000496121.1:n.1345-18C>T | |
| ENST00000646663.1:c.1345-18C>T | ENSP00000494693.1:n.1345-18C>T | |
| ENST00000647231.1:c.1345-18C>T | ENSP00000496414.1:n.1345-18C>T | |
| ENST00000343115.8:c.1345-18C>T | ENSP00000342830.4:n.1345-18C>T | |
| ENST00000405097.5:c.1345-18C>T | ENSP00000384136.1:n.1345-18C>T | |
| ENST00000527537.5:n.574-18C>T | ||
| ENST00000528498.5:c.1345-18C>T | ENSP00000432112.1:n.1345-18C>T | |
| ENST00000528900.5:c.304-18C>T | ENSP00000433580.1:n.304-18C>T | |
| ENST00000530085.2:n.355-18C>T | ||
| ENST00000530131.5:c.*815-18C>T | ENSP00000432829.1:n.*815-18C>T | |
| ENST00000530301.5:c.405-1493C>T | ENSP00000436277.1:n.405-1493C>T | |
| ENST00000530749.5:c.1345-18C>T | ENSP00000437301.1:n.1345-18C>T | |
| ENST00000532461.5:n.460-18C>T | ||
| ENST00000533961.1:n.27C>T | ||
| ENST00000544551.5:c.937-18C>T | ENSP00000445826.1:n.937-18C>T | |
| NM_001260492.1:c.1345-18C>T | NP_001247421.1:n.1345-18C>T | |
| NM_001260493.1:c.1345-18C>T | NP_001247422.1:n.1345-18C>T | |
| NM_001260494.1:c.937-18C>T | NP_001247423.1:n.937-18C>T | |
| NM_001260495.1:c.304-18C>T | NP_001247424.1:n.304-18C>T | |
| NM_001260496.1:c.405-1493C>T | NP_001247425.1:n.405-1493C>T | |
| NM_002906.3:c.1345-18C>T | NP_002897.1:n.1345-18C>T | |
| NM_001260492.2:c.1345-18C>T | NP_001247421.1:n.1345-18C>T | |
| NM_002906.4:c.1345-18C>T MANE Select | NP_002897.1:n.1345-18C>T | |
| NM_001260493.2:c.1345-18C>T | NP_001247422.1:n.1345-18C>T | |
| NM_001260494.2:c.937-18C>T | NP_001247423.1:n.937-18C>T | |
| NM_001260495.2:c.304-18C>T | NP_001247424.1:n.304-18C>T | |
| NM_001260496.2:c.405-1493C>T | NP_001247425.1:n.405-1493C>T |