Linked Data
ClinVar Variation Id:
1228284
ClinVar RCV Id:
RCV001614375
dbSNP Id:
rs2288529
gnomAD v2:
19-55665689-C-G
gnomAD v3:
19-55154321-C-G
gnomAD v4:
19-55154321-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154321C>G , CM000681.2:g.55154321C>G | GRCh38 |
| NC_000019.9:g.55665689C>G , CM000681.1:g.55665689C>G | GRCh37 |
| NC_000019.8:g.60357501C>G | NCBI36 |
| NG_007866.2:g.8412G>C , LRG_432:g.8412G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.373-115G>C MANE Select | ENSP00000341838.5:n.373-115G>C | |
| ENST00000665070.1:c.406-115G>C | ENSP00000499482.1:n.406-115G>C | |
| ENST00000344887.9:c.373-115G>C | ENSP00000341838.5:n.373-115G>C | |
| ENST00000585806.5:n.372-115G>C | ||
| ENST00000586669.5:n.381-115G>C | ||
| ENST00000587176.5:n.976G>C | ||
| ENST00000588882.1:c.298-115G>C | ENSP00000466729.1:n.298-115G>C | |
| ENST00000589864.1:n.86G>C | ||
| NM_000363.4:c.373-115G>C , LRG_432t1:c.373-115G>C | NP_000354.4:n.373-115G>C | |
| NM_000363.5:c.373-115G>C MANE Select | NP_000354.4:n.373-115G>C |