Linked Data
ClinVar Variation Id:
55993
ClinVar RCV Id:
RCV000049402
dbSNP Id:
rs386833475
ExAC:
7:107408208 T / C
gnomAD v2:
7-107408208-T-C
gnomAD v4:
7-107767763-T-C
PubMed:
PMID:21394828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107767763T>C , CM000669.2:g.107767763T>C | GRCh38 |
| NC_000007.13:g.107408208T>C , CM000669.1:g.107408208T>C | GRCh37 |
| NC_000007.12:g.107195444T>C | NCBI36 |
| NG_008046.1:g.40471A>G , LRG_683:g.40471A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.2205+3A>G MANE Select | ENSP00000345873.5:n.2205+3A>G | |
| ENST00000340010.9:c.2205+3A>G | ENSP00000345873.5:n.2205+3A>G | |
| ENST00000379083.7:c.*1762+3A>G | ENSP00000368375.3:n.*1762+3A>G | |
| NM_000111.2:c.2205+3A>G , LRG_683t1:c.2205+3A>G | NP_000102.1:n.2205+3A>G | |
| XM_011515867.1:c.2205+3A>G | XP_011514169.1:n.2205+3A>G | |
| NM_000111.3:c.2205+3A>G MANE Select | NP_000102.1:n.2205+3A>G |