Linked Data
ClinVar Variation Id:
190351
ClinVar RCV Id:
RCV000192151
dbSNP Id:
rs763868966
ExAC:
17:42988797 C / A
gnomAD v2:
17-42988797-C-A
gnomAD v3:
17-44911429-C-A
gnomAD v4:
17-44911429-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44911429C>A , CM000679.2:g.44911429C>A | GRCh38 |
| NC_000017.10:g.42988797C>A , CM000679.1:g.42988797C>A | GRCh37 |
| NC_000017.9:g.40344323C>A | NCBI36 |
| NG_008401.1:g.9118G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253408.11:c.934G>T | ENSP00000253408.5:p.Glu312Ter | |
| ENST00000435360.8:c.934G>T | ENSP00000403962.1:p.Glu312Ter | |
| ENST00000253408.10:c.934G>T | ENSP00000253408.5:p.Glu312Ter | |
| ENST00000435360.7:c.934G>T | ENSP00000403962.1:p.Glu312Ter | |
| ENST00000585543.6:n.87G>T | ||
| ENST00000586127.6:n.1463G>T | ||
| ENST00000586793.6:c.907-108G>T | ENSP00000468500.2:n.907-108G>T | |
| ENST00000587997.6:n.410G>T | ||
| ENST00000588735.3:c.934G>T MANE Select | ENSP00000466598.2:p.Glu312Ter | |
| ENST00000591327.2:n.2088G>T | ||
| ENST00000592320.6:c.619-108G>T | ENSP00000465320.1:n.619-108G>T | |
| ENST00000638281.1:c.934G>T | ENSP00000491088.1:p.Glu312Ter | |
| ENST00000638618.1:c.589G>T | ENSP00000492832.1:p.Glu197Ter | |
| ENST00000639277.1:c.934G>T | ENSP00000492432.1:p.Glu312Ter | |
| ENST00000640552.1:n.948G>T | ||
| ENST00000253408.9:c.934G>T | ENSP00000253408.4:p.Glu312Ter | |
| ENST00000376990.8:c.*333G>T | ENSP00000366189.4:n.*333G>T | |
| ENST00000435360.6:c.934G>T | ENSP00000403962.1:p.Glu312Ter | |
| ENST00000585543.5:n.87G>T | ||
| ENST00000586793.5:c.934G>T | ENSP00000468500.1:p.Glu312Ter | |
| ENST00000587997.5:c.410G>T | ||
| ENST00000588640.5:n.314G>T | ||
| ENST00000588735.1:c.83-3313G>T | ENSP00000466598.1:n.83-3313G>T | |
| ENST00000591719.5:n.568G>T | ||
| ENST00000592320.5:c.619-108G>T | ENSP00000465320.1:n.619-108G>T | |
| NM_001131019.2:c.934G>T | NP_001124491.1:p.Glu312Ter | |
| NM_001242376.1:c.934G>T | NP_001229305.1:p.Glu312Ter | |
| NM_002055.4:c.934G>T | NP_002046.1:p.Glu312Ter | |
| NM_001363846.1:c.934G>T | NP_001350775.1:p.Glu312Ter | |
| XM_024450690.1:c.1138G>T | XP_024306458.1:p.Glu380Ter | |
| XM_024450691.1:c.1138G>T | XP_024306459.1:p.Glu380Ter | |
| XM_024450692.1:c.1138G>T | XP_024306460.1:p.Glu380Ter | |
| XM_024450693.1:c.1138G>T | XP_024306461.1:p.Glu380Ter | |
| NM_002055.5:c.934G>T MANE Select | NP_002046.1:p.Glu312Ter | |
| NM_001131019.3:c.934G>T | NP_001124491.1:p.Glu312Ter | |
| NM_001242376.2:c.934G>T | NP_001229305.1:p.Glu312Ter | |
| NM_001242376.3:c.934G>T | NP_001229305.1:p.Glu312Ter | |
| NM_001363846.2:c.934G>T | NP_001350775.1:p.Glu312Ter |