Linked Data
ClinVar Variation Id:
130301
ClinVar RCV Id:
RCV000118339
RCV000203974
RCV000212999
RCV000301828
RCV001173902
RCV001095080
RCV002362747
dbSNP Id:
rs80227512
ExAC:
5:148421065 G / A
gnomAD v2:
5-148421065-G-A
gnomAD v3:
5-149041502-G-A
gnomAD v4:
5-149041502-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149041502G>A , CM000667.2:g.149041502G>A | GRCh38 |
| NC_000005.9:g.148421065G>A , CM000667.1:g.148421065G>A | GRCh37 |
| NC_000005.8:g.148401258G>A | NCBI36 |
| NG_007947.2:g.26673C>T , LRG_269:g.26673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.593C>T | ||
| ENST00000515425.6:c.645C>T MANE Select | ENSP00000423660.1:p.Ser215= | |
| ENST00000674983.1:c.645C>T | ENSP00000502387.1:p.Ser215= | |
| ENST00000675793.1:c.645C>T | ENSP00000502039.1:p.Ser215= | |
| ENST00000676056.1:c.645C>T | ENSP00000501827.1:p.Ser215= | |
| ENST00000676367.1:n.261C>T | ||
| ENST00000323829.9:c.645C>T | ENSP00000313025.5:p.Ser215= | |
| ENST00000503071.1:n.170C>T | ||
| ENST00000504517.5:c.45C>T | ENSP00000421779.1:p.Ser15= | |
| ENST00000504690.5:c.645C>T | ENSP00000425627.1:p.Ser215= | |
| ENST00000511307.5:c.*425C>T | ENSP00000421420.1:n.*425C>T | |
| ENST00000512049.5:c.624C>T | ENSP00000421860.1:p.Ser208= | |
| ENST00000513604.5:c.645C>T | ENSP00000423111.1:p.Ser215= | |
| ENST00000515425.5:c.645C>T | ENSP00000423660.1:p.Ser215= | |
| NM_024577.3:c.645C>T , LRG_269t1:c.645C>T | NP_078853.2:p.Ser215= | |
| NM_024577.4:c.645C>T MANE Select | NP_078853.2:p.Ser215= |