Linked Data
ClinVar Variation Id:
2989176
ClinVar RCV Id:
RCV003849327
dbSNP Id:
rs773216333
gnomAD v2:
19-55666183-G-C
gnomAD v4:
19-55154815-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154815G>C , CM000681.2:g.55154815G>C | GRCh38 |
| NC_000019.9:g.55666183G>C , CM000681.1:g.55666183G>C | GRCh37 |
| NC_000019.8:g.60357995G>C | NCBI36 |
| NG_007866.2:g.7918C>G , LRG_432:g.7918C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.298C>G MANE Select | ENSP00000341838.5:p.Leu100Val | |
| ENST00000665070.1:c.298C>G | ENSP00000499482.1:p.Leu100Val | |
| ENST00000344887.9:c.298C>G | ENSP00000341838.5:p.Leu100Val | |
| ENST00000585806.5:n.297C>G | ||
| ENST00000586669.5:n.306C>G | ||
| ENST00000587176.5:n.482C>G | ||
| ENST00000587871.1:c.917C>G | ||
| ENST00000588882.1:c.223C>G | ENSP00000466729.1:p.Leu75Val | |
| ENST00000590463.1:n.470C>G | ||
| NM_000363.4:c.298C>G , LRG_432t1:c.298C>G | NP_000354.4:p.Leu100Val | |
| NM_000363.5:c.298C>G MANE Select | NP_000354.4:p.Leu100Val |