Linked Data
ClinVar Variation Id:
237690
dbSNP Id:
rs770260866
gnomAD v2:
19-55667564-G-C
gnomAD v3:
19-55156196-G-C
gnomAD v4:
19-55156196-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156196G>C , CM000681.2:g.55156196G>C | GRCh38 |
| NC_000019.9:g.55667564G>C , CM000681.1:g.55667564G>C | GRCh37 |
| NC_000019.8:g.60359376G>C | NCBI36 |
| NG_007866.2:g.6537C>G , LRG_432:g.6537C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.282+5C>G MANE Select | ENSP00000341838.5:n.282+5C>G | |
| ENST00000665070.1:c.282+5C>G | ENSP00000499482.1:n.282+5C>G | |
| ENST00000344887.9:c.282+5C>G | ENSP00000341838.5:n.282+5C>G | |
| ENST00000585806.5:n.281+5C>G | ||
| ENST00000586669.5:n.290+5C>G | ||
| ENST00000587176.5:n.466+5C>G | ||
| ENST00000587871.1:c.901+5C>G | ||
| ENST00000588882.1:c.207+5C>G | ENSP00000466729.1:n.207+5C>G | |
| ENST00000590463.1:n.454+5C>G | ||
| NM_000363.4:c.282+5C>G , LRG_432t1:c.282+5C>G | NP_000354.4:n.282+5C>G | |
| NM_000363.5:c.282+5C>G MANE Select | NP_000354.4:n.282+5C>G |