Linked Data
ClinVar Variation Id:
351896
ClinVar RCV Id:
RCV000333938
RCV000710218
RCV000419130
RCV000555131
RCV001095105
RCV001172841
RCV002356484
RCV004530421
dbSNP Id:
rs144873879
ExAC:
5:148384346 C / G
gnomAD v2:
5-148384346-C-G
gnomAD v3:
5-149004783-C-G
gnomAD v4:
5-149004783-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149004783C>G , CM000667.2:g.149004783C>G | GRCh38 |
| NC_000005.9:g.148384346C>G , CM000667.1:g.148384346C>G | GRCh37 |
| NC_000005.8:g.148364539C>G | NCBI36 |
| NG_007947.2:g.63392G>C , LRG_269:g.63392G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.4648G>C | ||
| ENST00000515425.6:c.3795G>C MANE Select | ENSP00000423660.1:p.Leu1265= | |
| ENST00000643113.1:c.151-941G>C | ||
| ENST00000675793.1:c.*4852G>C | ENSP00000502039.1:n.*4852G>C | |
| ENST00000323829.9:c.*3183G>C | ENSP00000313025.5:n.*3183G>C | |
| ENST00000502274.1:c.381G>C | ENSP00000421092.1:p.Leu127= | |
| ENST00000504517.5:c.3317G>C | ENSP00000421779.1:n.3317G>C | |
| ENST00000504690.5:c.3676-941G>C | ENSP00000425627.1:n.3676-941G>C | |
| ENST00000510350.1:n.231+2098G>C | ||
| ENST00000510779.1:c.2845G>C | ||
| ENST00000512049.5:c.3774G>C | ENSP00000421860.1:p.Leu1258= | |
| ENST00000515229.5:n.338-941G>C | ||
| ENST00000515425.5:c.3795G>C | ENSP00000423660.1:p.Leu1265= | |
| NM_024577.3:c.3795G>C , LRG_269t1:c.3795G>C | NP_078853.2:p.Leu1265= | |
| NM_024577.4:c.3795G>C MANE Select | NP_078853.2:p.Leu1265= |