Linked Data
ClinVar Variation Id:
2754714
ClinVar RCV Id:
RCV003564003
dbSNP Id:
rs1409862439
gnomAD v4:
6-31946296-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946296G>C , CM000668.2:g.31946296G>C | GRCh38 |
| NC_000006.11:g.31914073G>C , CM000668.1:g.31914073G>C | GRCh37 |
| NC_000006.10:g.32022052G>C | NCBI36 |
| NG_008191.1:g.5353G>C , LRG_136:g.5353G>C | |
| NG_011730.1:g.23808G>C , LRG_26:g.23808G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.241+11G>C | ||
| ENST00000483004.2:c.64+11G>C | ENSP00000419887.2:n.64+11G>C | |
| ENST00000497841.6:c.64+11G>C | ENSP00000513847.1:n.64+11G>C | |
| ENST00000698628.1:c.64+11G>C | ENSP00000513848.1:n.64+11G>C | |
| ENST00000698629.1:n.241+11G>C | ||
| ENST00000698630.1:n.225+11G>C | ||
| ENST00000698631.1:n.220+11G>C | ||
| ENST00000698632.1:n.192+11G>C | ||
| ENST00000698633.1:n.162+11G>C | ||
| ENST00000698636.1:n.286+11G>C | ||
| ENST00000425368.7:c.64+11G>C MANE Select | ENSP00000416561.2:n.64+11G>C | |
| ENST00000425368.6:c.64+11G>C | ENSP00000416561.2:n.64+11G>C | |
| ENST00000452035.6:n.64+11G>C | ||
| ENST00000456570.5:c.1571-77G>C | ENSP00000410815.1:n.1571-77G>C | |
| ENST00000460718.5:c.64+11G>C | ENSP00000417793.1:n.64+11G>C | |
| ENST00000472581.1:n.311+11G>C | ||
| ENST00000475617.5:c.64+11G>C | ENSP00000420090.1:n.64+11G>C | |
| ENST00000477310.1:c.1352-711G>C | ENSP00000418996.1:n.1352-711G>C | |
| NM_001710.5:c.64+11G>C , LRG_136t1:c.64+11G>C | NP_001701.2:n.64+11G>C | |
| NM_001710.6:c.64+11G>C MANE Select | NP_001701.2:n.64+11G>C |