Linked Data
ClinVar Variation Id:
2989031
dbSNP Id:
rs933931422
gnomAD v2:
6-31914068-C-T
gnomAD v3:
6-31946291-C-T
gnomAD v4:
6-31946291-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946291C>T , CM000668.2:g.31946291C>T | GRCh38 |
| NC_000006.11:g.31914068C>T , CM000668.1:g.31914068C>T | GRCh37 |
| NC_000006.10:g.32022047C>T | NCBI36 |
| NG_008191.1:g.5348C>T , LRG_136:g.5348C>T | |
| NG_011730.1:g.23803C>T , LRG_26:g.23803C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.241+6C>T | ||
| ENST00000483004.2:c.64+6C>T | ENSP00000419887.2:n.64+6C>T | |
| ENST00000497841.6:c.64+6C>T | ENSP00000513847.1:n.64+6C>T | |
| ENST00000698628.1:c.64+6C>T | ENSP00000513848.1:n.64+6C>T | |
| ENST00000698629.1:n.241+6C>T | ||
| ENST00000698630.1:n.225+6C>T | ||
| ENST00000698631.1:n.220+6C>T | ||
| ENST00000698632.1:n.192+6C>T | ||
| ENST00000698633.1:n.162+6C>T | ||
| ENST00000698636.1:n.286+6C>T | ||
| ENST00000425368.7:c.64+6C>T MANE Select | ENSP00000416561.2:n.64+6C>T | |
| ENST00000425368.6:c.64+6C>T | ENSP00000416561.2:n.64+6C>T | |
| ENST00000452035.6:n.64+6C>T | ||
| ENST00000456570.5:c.1571-82C>T | ENSP00000410815.1:n.1571-82C>T | |
| ENST00000460718.5:c.64+6C>T | ENSP00000417793.1:n.64+6C>T | |
| ENST00000472581.1:n.311+6C>T | ||
| ENST00000475617.5:c.64+6C>T | ENSP00000420090.1:n.64+6C>T | |
| ENST00000477310.1:c.1352-716C>T | ENSP00000418996.1:n.1352-716C>T | |
| NM_001710.5:c.64+6C>T , LRG_136t1:c.64+6C>T | NP_001701.2:n.64+6C>T | |
| NM_001710.6:c.64+6C>T MANE Select | NP_001701.2:n.64+6C>T |