Linked Data
ClinVar Variation Id:
1396751
ClinVar RCV Id:
RCV001887488
dbSNP Id:
rs1404180680
gnomAD v2:
5-147781981-G-A
gnomAD v4:
5-148402418-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148402418G>A , CM000667.2:g.148402418G>A | GRCh38 |
| NC_000005.9:g.147781981G>A , CM000667.1:g.147781981G>A | GRCh37 |
| NC_000005.8:g.147762174G>A | NCBI36 |
| NG_033871.1:g.23484G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340253.10:c.497G>A MANE Select | ENSP00000342023.6:p.Gly166Glu | |
| ENST00000296701.10:c.497G>A | ENSP00000296701.6:p.Gly166Glu | |
| ENST00000340253.9:c.497G>A | ENSP00000342023.5:p.Gly166Glu | |
| ENST00000394370.7:c.497G>A | ENSP00000377895.3:p.Gly166Glu | |
| ENST00000502629.1:n.371G>A | ||
| ENST00000508326.5:n.598G>A | ||
| ENST00000509699.6:n.562G>A | ||
| ENST00000511080.5:n.221+7514G>A | ||
| ENST00000513826.1:c.497G>A | ENSP00000426410.1:p.Gly166Glu | |
| ENST00000521160.5:n.546G>A | ||
| NM_001271723.1:c.497G>A | NP_001258652.1:p.Gly166Glu | |
| NM_030793.4:c.497G>A | NP_110420.3:p.Gly166Glu | |
| XM_005268513.1:c.497G>A | XP_005268570.1:p.Gly166Glu | |
| XM_006714797.1:c.497G>A | XP_006714860.1:p.Gly166Glu | |
| NM_205836.2:c.497G>A | NP_995308.1:p.Gly166Glu | |
| XM_006714797.2:c.497G>A | XP_006714860.1:p.Gly166Glu | |
| XM_011537684.3:c.-851G>A | XP_011535986.1:n.-851G>A | |
| XM_017009899.1:c.-761G>A | XP_016865388.1:n.-761G>A | |
| XM_017009900.2:c.-1010G>A | XP_016865389.1:n.-1010G>A | |
| XM_017009901.2:c.-761G>A | XP_016865390.1:n.-761G>A | |
| XM_017009902.2:c.-851G>A | XP_016865391.1:n.-851G>A | |
| XM_024446223.1:c.497G>A | XP_024301991.1:p.Gly166Glu | |
| XR_001742284.1:n.643G>A | ||
| NM_030793.5:c.497G>A | NP_110420.3:p.Gly166Glu | |
| NM_205836.3:c.497G>A MANE Select | NP_995308.1:p.Gly166Glu | |
| NM_001271723.2:c.497G>A | NP_001258652.1:p.Gly166Glu |