Linked Data
ClinVar Variation Id:
194494
ClinVar RCV Id:
RCV000334797
RCV000712265
RCV001084583
RCV001173329
RCV001336444
RCV001706121
RCV002433765
dbSNP Id:
rs147674615
ExAC:
11:68707139 T / G
gnomAD v2:
11-68707139-T-G
gnomAD v3:
11-68939671-T-G
gnomAD v4:
11-68939671-T-G
COSMIC:
COSM329415
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68939671T>G , CM000673.2:g.68939671T>G | GRCh38 |
| NC_000011.9:g.68707139T>G , CM000673.1:g.68707139T>G | GRCh37 |
| NC_000011.8:g.68463715T>G | NCBI36 |
| NG_007976.1:g.40821T>G , LRG_250:g.40821T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2922T>G MANE Select | ENSP00000255078.4:p.Asp974Glu | |
| ENST00000675118.1:c.2410T>G | ||
| ENST00000675615.1:c.*121T>G | ENSP00000502413.1:n.*121T>G | |
| ENST00000675648.1:n.2484T>G | ||
| ENST00000675916.1:c.1353T>G | ||
| ENST00000676173.1:n.3667T>G | ||
| ENST00000255078.7:c.2922T>G | ENSP00000255078.3:p.Asp974Glu | |
| ENST00000543739.5:n.1915T>G | ||
| ENST00000544521.1:n.753T>G | ||
| NM_002180.2:c.2922T>G , LRG_250t1:c.2922T>G | NP_002171.2:p.Asp974Glu | |
| XM_005273974.2:c.1911T>G | XP_005274031.1:p.Asp637Glu | |
| XM_005273975.2:c.1794T>G | XP_005274032.1:p.Asp598Glu | |
| XM_011544994.1:c.1689T>G | XP_011543296.1:p.Asp563Glu | |
| XR_949903.1:n.3211T>G | ||
| XM_005273975.3:c.1794T>G | XP_005274032.1:p.Asp598Glu | |
| XM_017017669.2:c.1911T>G | XP_016873158.1:p.Asp637Glu | |
| XM_017017670.2:c.1911T>G | XP_016873159.1:p.Asp637Glu | |
| XR_949903.3:n.3207T>G | ||
| NM_002180.3:c.2922T>G MANE Select | NP_002171.2:p.Asp974Glu |