Linked Data
ClinVar Variation Id:
239969
dbSNP Id:
rs17880082
ExAC:
9:35076764 C / T
gnomAD v2:
9-35076764-C-T
gnomAD v3:
9-35076767-C-T
gnomAD v4:
9-35076767-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35076767C>T , CM000671.2:g.35076767C>T | GRCh38 |
| NC_000009.11:g.35076764C>T , CM000671.1:g.35076764C>T | GRCh37 |
| NC_000009.10:g.35066764C>T | NCBI36 |
| NG_007312.1:g.8250G>A , LRG_499:g.8250G>A | |
| NG_007887.1:g.976G>A , LRG_657:g.976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.881G>A | ENSP00000409607.2:p.Gly294Glu | |
| ENST00000461149.2:n.2098G>A | ||
| ENST00000696700.1:n.2133G>A | ||
| ENST00000696701.1:n.985G>A | ||
| ENST00000696702.1:c.*357G>A | ENSP00000512821.1:n.*357G>A | |
| ENST00000696703.1:c.*357G>A | ENSP00000512822.1:n.*357G>A | |
| ENST00000696706.1:n.944G>A | ||
| ENST00000696707.1:n.1098G>A | ||
| ENST00000696708.1:c.*226G>A | ENSP00000512825.1:n.*226G>A | |
| ENST00000696709.1:n.1283G>A | ||
| ENST00000696710.1:c.881G>A | ENSP00000512826.1:p.Gly294Glu | |
| ENST00000696711.1:n.2330G>A | ||
| ENST00000696712.1:n.997G>A | ||
| ENST00000696713.1:c.881G>A | ENSP00000512827.1:p.Gly294Glu | |
| ENST00000696714.1:n.1357G>A | ||
| ENST00000696715.1:c.881G>A | ENSP00000512828.1:p.Gly294Glu | |
| ENST00000378643.8:c.881G>A MANE Select | ENSP00000367910.4:p.Gly294Glu | |
| ENST00000378643.7:c.881G>A | ENSP00000367910.3:p.Gly294Glu | |
| ENST00000425676.5:c.*357G>A | ENSP00000412793.1:n.*357G>A | |
| ENST00000474894.1:n.86G>A | ||
| NM_004629.1:c.881G>A , LRG_499t1:c.881G>A | NP_004620.1:p.Gly294Glu | |
| NM_004629.2:c.881G>A MANE Select | NP_004620.1:p.Gly294Glu |