Linked Data
ClinVar Variation Id:
43378
ClinVar RCV Id:
RCV000036287
RCV000537053
RCV001129873
RCV001465278
RCV002345286
RCV001129872
RCV001134901
RCV001134902
RCV001178608
dbSNP Id:
rs2288530
ExAC:
19:55665578 G / C
gnomAD v2:
19-55665578-G-C
gnomAD v3:
19-55154210-G-C
gnomAD v4:
19-55154210-G-C
PubMed:
PMID:9241277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154210G>C , CM000681.2:g.55154210G>C | GRCh38 |
| NC_000019.9:g.55665578G>C , CM000681.1:g.55665578G>C | GRCh37 |
| NC_000019.8:g.60357390G>C | NCBI36 |
| NG_007866.2:g.8523C>G , LRG_432:g.8523C>G | |
| NG_011829.2:g.29C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.373-4C>G MANE Select | ENSP00000341838.5:n.373-4C>G | |
| ENST00000665070.1:c.406-4C>G | ENSP00000499482.1:n.406-4C>G | |
| ENST00000344887.9:c.373-4C>G | ENSP00000341838.5:n.373-4C>G | |
| ENST00000585806.5:n.372-4C>G | ||
| ENST00000586669.5:n.381-4C>G | ||
| ENST00000588882.1:c.298-4C>G | ENSP00000466729.1:n.298-4C>G | |
| ENST00000589864.1:n.197C>G | ||
| NM_000363.4:c.373-4C>G , LRG_432t1:c.373-4C>G | NP_000354.4:n.373-4C>G | |
| NM_000363.5:c.373-4C>G MANE Select | NP_000354.4:n.373-4C>G |