Linked Data
ClinVar Variation Id:
219388
ClinVar RCV Id:
RCV000205496
RCV000235753
RCV000289039
RCV000726668
RCV001095079
RCV002372193
RCV004541285
RCV001173160
dbSNP Id:
rs148634904
ExAC:
5:148421021 A / G
gnomAD v2:
5-148421021-A-G
gnomAD v3:
5-149041458-A-G
gnomAD v4:
5-149041458-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149041458A>G , CM000667.2:g.149041458A>G | GRCh38 |
| NC_000005.9:g.148421021A>G , CM000667.1:g.148421021A>G | GRCh37 |
| NC_000005.8:g.148401214A>G | NCBI36 |
| NG_007947.2:g.26717T>C , LRG_269:g.26717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.621+16T>C | ||
| ENST00000515425.6:c.689T>C MANE Select | ENSP00000423660.1:p.Val230Ala | |
| ENST00000674983.1:c.673+16T>C | ENSP00000502387.1:n.673+16T>C | |
| ENST00000675793.1:c.689T>C | ENSP00000502039.1:p.Val230Ala | |
| ENST00000676056.1:c.673+16T>C | ENSP00000501827.1:n.673+16T>C | |
| ENST00000676367.1:n.289+16T>C | ||
| ENST00000323829.9:c.673+16T>C | ENSP00000313025.5:n.673+16T>C | |
| ENST00000503071.1:n.198+16T>C | ||
| ENST00000504517.5:c.89T>C | ENSP00000421779.1:p.Val30Ala | |
| ENST00000504690.5:c.689T>C | ENSP00000425627.1:p.Val230Ala | |
| ENST00000511307.5:c.*469T>C | ENSP00000421420.1:n.*469T>C | |
| ENST00000512049.5:c.668T>C | ENSP00000421860.1:p.Val223Ala | |
| ENST00000513604.5:c.673+16T>C | ENSP00000423111.1:n.673+16T>C | |
| ENST00000515425.5:c.689T>C | ENSP00000423660.1:p.Val230Ala | |
| NM_024577.3:c.689T>C , LRG_269t1:c.689T>C | NP_078853.2:p.Val230Ala | |
| NM_024577.4:c.689T>C MANE Select | NP_078853.2:p.Val230Ala |