Linked Data
ClinVar Variation Id:
215924
ClinVar RCV Id:
RCV000200778
RCV000297413
RCV000516186
RCV001172844
RCV001095068
RCV001705153
RCV002453723
dbSNP Id:
rs375970910
ExAC:
5:148389845 C / T
gnomAD v2:
5-148389845-C-T
gnomAD v3:
5-149010282-C-T
gnomAD v4:
5-149010282-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149010282C>T , CM000667.2:g.149010282C>T | GRCh38 |
| NC_000005.9:g.148389845C>T , CM000667.1:g.148389845C>T | GRCh37 |
| NC_000005.8:g.148370038C>T | NCBI36 |
| NG_007947.2:g.57893G>A , LRG_269:g.57893G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.3211G>A | ||
| ENST00000515425.6:c.3315G>A MANE Select | ENSP00000423660.1:p.Val1105= | |
| ENST00000675793.1:c.*2599G>A | ENSP00000502039.1:n.*2599G>A | |
| ENST00000323829.9:c.*2703G>A | ENSP00000313025.5:n.*2703G>A | |
| ENST00000504517.5:c.2845G>A | ENSP00000421779.1:n.2845G>A | |
| ENST00000504690.5:c.3315G>A | ENSP00000425627.1:p.Val1105= | |
| ENST00000510779.1:c.2365G>A | ||
| ENST00000512049.5:c.3294G>A | ENSP00000421860.1:p.Val1098= | |
| ENST00000515425.5:c.3315G>A | ENSP00000423660.1:p.Val1105= | |
| NM_024577.3:c.3315G>A , LRG_269t1:c.3315G>A | NP_078853.2:p.Val1105= | |
| NM_024577.4:c.3315G>A MANE Select | NP_078853.2:p.Val1105= |