Linked Data
ClinVar Variation Id:
1658534
ClinVar RCV Id:
RCV002174172
dbSNP Id:
rs376166078
ExAC:
18:47095857 C / T
gnomAD v2:
18-47095857-C-T
gnomAD v3:
18-49569487-C-T
gnomAD v4:
18-49569487-C-T
COSMIC:
COSM2878882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49569487C>T , CM000680.2:g.49569487C>T | GRCh38 |
| NC_000018.9:g.47095857C>T , CM000680.1:g.47095857C>T | GRCh37 |
| NC_000018.8:g.45349855C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.510C>T MANE Select | ENSP00000261292.4:p.Leu170= | |
| ENST00000261292.8:c.510C>T | ENSP00000261292.4:p.Leu170= | |
| ENST00000427224.6:c.510C>T | ENSP00000387978.2:p.Leu170= | |
| ENST00000577628.5:c.618C>T | ENSP00000463835.1:p.Leu206= | |
| ENST00000580036.5:c.510C>T | ENSP00000462420.1:p.Leu170= | |
| NM_001308006.1:c.510C>T | NP_001294935.1:p.Leu170= | |
| NM_006033.2:c.510C>T | NP_006024.1:p.Leu170= | |
| NM_006033.3:c.510C>T | NP_006024.1:p.Leu170= | |
| XM_005258390.1:c.618C>T | XP_005258447.1:p.Leu206= | |
| XM_011526265.1:c.618C>T | XP_011524567.1:p.Leu206= | |
| XM_011526267.1:c.270C>T | XP_011524569.1:p.Leu90= | |
| XM_011526265.3:c.618C>T | XP_011524567.1:p.Leu206= | |
| XM_017026095.1:c.-194C>T | XP_016881584.1:n.-194C>T | |
| NM_006033.4:c.510C>T MANE Select | NP_006024.1:p.Leu170= | |
| NM_001308006.2:c.510C>T | NP_001294935.1:p.Leu170= |