Linked Data
ClinVar Variation Id:
193931
ClinVar RCV Id:
RCV000174165
RCV000205788
RCV001079213
RCV001155697
RCV001173900
RCV001155696
RCV002492732
dbSNP Id:
rs17109261
ExAC:
5:148407208 T / C
gnomAD v2:
5-148407208-T-C
gnomAD v3:
5-149027645-T-C
gnomAD v4:
5-149027645-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027645T>C , CM000667.2:g.149027645T>C | GRCh38 |
| NC_000005.9:g.148407208T>C , CM000667.1:g.148407208T>C | GRCh37 |
| NC_000005.8:g.148387401T>C | NCBI36 |
| NG_007947.2:g.40530A>G , LRG_269:g.40530A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1983A>G | ||
| ENST00000515425.6:c.2087A>G MANE Select | ENSP00000423660.1:p.His696Arg | |
| ENST00000675793.1:c.*1371A>G | ENSP00000502039.1:n.*1371A>G | |
| ENST00000676056.1:c.*1597A>G | ENSP00000501827.1:n.*1597A>G | |
| ENST00000323829.9:c.*1475A>G | ENSP00000313025.5:n.*1475A>G | |
| ENST00000504517.5:c.1617A>G | ENSP00000421779.1:n.1617A>G | |
| ENST00000504690.5:c.2087A>G | ENSP00000425627.1:p.His696Arg | |
| ENST00000510779.1:c.1137A>G | ||
| ENST00000511307.5:c.*1867A>G | ENSP00000421420.1:n.*1867A>G | |
| ENST00000512049.5:c.2066A>G | ENSP00000421860.1:p.His689Arg | |
| ENST00000513604.5:c.*1475A>G | ENSP00000423111.1:n.*1475A>G | |
| ENST00000515425.5:c.2087A>G | ENSP00000423660.1:p.His696Arg | |
| NM_024577.3:c.2087A>G , LRG_269t1:c.2087A>G | NP_078853.2:p.His696Arg | |
| NM_024577.4:c.2087A>G MANE Select | NP_078853.2:p.His696Arg |