Linked Data
ClinVar Variation Id:
1905304
ClinVar RCV Id:
RCV002580766
dbSNP Id:
rs1373761187
gnomAD v2:
18-12358662-A-G
gnomAD v4:
18-12358663-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12358663A>G , CM000680.2:g.12358663A>G | GRCh38 |
| NC_000018.9:g.12358662A>G , CM000680.1:g.12358662A>G | GRCh37 |
| NC_000018.8:g.12348662A>G | NCBI36 |
| NG_023361.1:g.23614T>C , LRG_666:g.23614T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*622+7T>C | ENSP00000508998.1:n.*622+7T>C | |
| ENST00000688199.1:c.1026+7T>C | ENSP00000510237.1:n.1026+7T>C | |
| ENST00000691179.1:c.951+7T>C | ENSP00000509010.1:n.951+7T>C | |
| ENST00000691970.1:c.*403+7T>C | ENSP00000508440.1:n.*403+7T>C | |
| ENST00000692497.1:c.1026+7T>C | ENSP00000509870.1:n.1026+7T>C | |
| ENST00000692988.1:n.844+7T>C | ||
| ENST00000269143.8:c.1026+7T>C MANE Select | ENSP00000269143.2:n.1026+7T>C | |
| ENST00000269143.7:c.1026+7T>C | ENSP00000269143.2:n.1026+7T>C | |
| NM_006796.2:c.1026+7T>C , LRG_666t1:c.1026+7T>C | NP_006787.2:n.1026+7T>C | |
| XM_011525601.1:c.1026+7T>C | XP_011523903.1:n.1026+7T>C | |
| XM_011525601.3:c.1026+7T>C | XP_011523903.1:n.1026+7T>C | |
| NM_006796.3:c.1026+7T>C MANE Select | NP_006787.2:n.1026+7T>C |