Linked Data
ClinVar Variation Id:
391455
ClinVar RCV Id:
RCV001721449
dbSNP Id:
rs535258435
gnomAD v2:
7-136553934-C-G
gnomAD v3:
7-136869187-C-G
gnomAD v4:
7-136869187-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.136869187C>G , CM000669.2:g.136869187C>G | GRCh38 |
| NC_000007.13:g.136553934C>G , CM000669.1:g.136553934C>G | GRCh37 |
| NC_000007.12:g.136204474C>G | NCBI36 |
| NG_011846.2:g.5536C>G , LRG_405:g.5536C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680005.1:c.-282-74C>G MANE Select | ENSP00000505686.1:n.-282-74C>G | |
| ENST00000320658.9:c.-205+14C>G | ENSP00000319984.5:n.-205+14C>G | |
| ENST00000401861.1:c.-361+14C>G | ENSP00000384401.1:n.-361+14C>G | |
| ENST00000445907.6:c.-204-74C>G | ENSP00000399745.2:n.-204-74C>G | |
| ENST00000453373.5:c.-205+70C>G | ENSP00000415386.1:n.-205+70C>G | |
| ENST00000471195.5:n.216-74C>G | ||
| ENST00000480591.5:n.89+14C>G | ||
| ENST00000481598.5:n.33+70C>G | ||
| NM_000739.2:c.-283+14C>G , LRG_405t1:c.-283+14C>G | NP_000730.1:n.-283+14C>G | |
| NM_001006626.1:c.-361+14C>G | NP_001006627.1:n.-361+14C>G | |
| NM_001006627.1:c.-204-74C>G | NP_001006628.1:n.-204-74C>G | |
| NM_001006630.1:c.-282-74C>G , LRG_405t2:c.-282-74C>G | NP_001006631.1:n.-282-74C>G | |
| NM_001006631.1:c.-283+70C>G | NP_001006632.1:n.-283+70C>G | |
| NM_001006632.1:c.-205+14C>G | NP_001006633.1:n.-205+14C>G | |
| XM_024446648.1:c.-394-74C>G | XP_024302416.1:n.-394-74C>G | |
| NM_001006626.2:c.-361+14C>G | NP_001006627.1:n.-361+14C>G | |
| NM_001006627.2:c.-204-74C>G | NP_001006628.1:n.-204-74C>G | |
| NM_001006631.2:c.-283+70C>G | NP_001006632.1:n.-283+70C>G | |
| NM_001006632.2:c.-205+14C>G | NP_001006633.1:n.-205+14C>G | |
| NM_000739.3:c.-283+14C>G | NP_000730.1:n.-283+14C>G | |
| NM_001006626.3:c.-361+14C>G | NP_001006627.1:n.-361+14C>G | |
| NM_001006627.3:c.-204-74C>G | NP_001006628.1:n.-204-74C>G | |
| NM_001006630.2:c.-282-74C>G MANE Select | NP_001006631.1:n.-282-74C>G | |
| NM_001006631.3:c.-283+70C>G | NP_001006632.1:n.-283+70C>G | |
| NM_001006632.3:c.-205+14C>G | NP_001006633.1:n.-205+14C>G | |
| NM_001378972.1:c.-394-74C>G | NP_001365901.1:n.-394-74C>G | |
| NM_001378973.1:c.-205+70C>G | NP_001365902.1:n.-205+70C>G |