Linked Data
ClinVar Variation Id:
2274370
ClinVar RCV Id:
RCV002812992
dbSNP Id:
rs890574264
gnomAD v2:
5-149754518-C-A
gnomAD v4:
5-150374955-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150374955C>A , CM000667.2:g.150374955C>A | GRCh38 |
| NC_000005.9:g.149754518C>A , CM000667.1:g.149754518C>A | GRCh37 |
| NC_000005.8:g.149734711C>A | NCBI36 |
| NG_011341.1:g.22317C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427724.7:c.1280C>A | ENSP00000390717.3:p.Ala427Glu | |
| ENST00000513538.2:c.1280C>A | ENSP00000422567.2:p.Ala427Glu | |
| ENST00000643257.2:c.1280C>A MANE Select | ENSP00000493815.1:p.Ala427Glu | |
| ENST00000646961.1:c.836C>A | ENSP00000496754.1:p.Ala279Glu | |
| ENST00000650162.1:c.1049C>A | ENSP00000497075.1:p.Ala350Glu | |
| ENST00000674413.1:c.568C>A | ||
| ENST00000323668.11:c.1049C>A | ENSP00000325223.6:p.Ala350Glu | |
| ENST00000377797.7:c.1280C>A | ENSP00000367028.4:p.Ala427Glu | |
| ENST00000394269.7:c.1280C>A | ENSP00000377811.3:p.Ala427Glu | |
| ENST00000427724.6:c.1280C>A | ENSP00000390717.2:p.Ala427Glu | |
| ENST00000439160.6:c.1280C>A | ENSP00000406888.2:p.Ala427Glu | |
| ENST00000445265.6:c.1049C>A | ENSP00000409944.2:p.Ala350Glu | |
| ENST00000504761.6:c.1280C>A | ENSP00000421655.2:p.Ala427Glu | |
| ENST00000513346.5:c.1280C>A | ENSP00000427484.1:p.Ala427Glu | |
| ENST00000514442.5:n.80C>A | ||
| ENST00000515035.5:n.2187C>A | ||
| ENST00000515516.1:c.342+7038C>A | ENSP00000426471.1:n.342+7038C>A | |
| NM_000356.3:c.1049C>A | NP_000347.2:p.Ala350Glu | |
| NM_001008657.2:c.1280C>A | NP_001008657.1:p.Ala427Glu | |
| NM_001135243.1:c.1280C>A | NP_001128715.1:p.Ala427Glu | |
| NM_001135244.1:c.1280C>A | NP_001128716.1:p.Ala427Glu | |
| NM_001135245.1:c.1049C>A | NP_001128717.1:p.Ala350Glu | |
| NM_001195141.1:c.1280C>A | NP_001182070.1:p.Ala427Glu | |
| XM_005268502.2:c.1280C>A | XP_005268559.1:p.Ala427Glu | |
| XM_005268503.2:c.1280C>A | XP_005268560.1:p.Ala427Glu | |
| XM_005268504.2:c.1280C>A | XP_005268561.1:p.Ala427Glu | |
| XM_005268505.2:c.1280C>A | XP_005268562.1:p.Ala427Glu | |
| XM_005268506.2:c.1280C>A | XP_005268563.1:p.Ala427Glu | |
| XM_005268507.2:c.1049C>A | XP_005268564.1:p.Ala350Glu | |
| XM_005268508.2:c.1280C>A | XP_005268565.1:p.Ala427Glu | |
| XM_005268509.2:c.1280C>A | XP_005268566.1:p.Ala427Glu | |
| XM_011537678.1:c.1280C>A | XP_011535980.1:p.Ala427Glu | |
| XR_427778.1:n.1325C>A | ||
| XR_427779.1:n.1325C>A | ||
| XR_427780.1:n.1325C>A | ||
| XM_005268502.4:c.1280C>A | XP_005268559.1:p.Ala427Glu | |
| XM_005268503.4:c.1280C>A | XP_005268560.1:p.Ala427Glu | |
| XM_005268504.4:c.1280C>A | XP_005268561.1:p.Ala427Glu | |
| XM_005268505.4:c.1280C>A | XP_005268562.1:p.Ala427Glu | |
| XM_005268506.4:c.1280C>A | XP_005268563.1:p.Ala427Glu | |
| XM_005268507.4:c.1049C>A | XP_005268564.1:p.Ala350Glu | |
| XM_005268508.4:c.1280C>A | XP_005268565.1:p.Ala427Glu | |
| XM_005268509.4:c.1280C>A | XP_005268566.1:p.Ala427Glu | |
| XM_011537678.3:c.1280C>A | XP_011535980.1:p.Ala427Glu | |
| XM_017009792.2:c.1280C>A | XP_016865281.1:p.Ala427Glu | |
| XM_017009793.2:c.1280C>A | XP_016865282.1:p.Ala427Glu | |
| XM_017009794.2:c.1280C>A | XP_016865283.1:p.Ala427Glu | |
| XM_017009795.2:c.1049C>A | XP_016865284.1:p.Ala350Glu | |
| XR_427778.3:n.1327C>A | ||
| XR_427779.2:n.1327C>A | ||
| XR_427780.3:n.1327C>A | ||
| NM_000356.4:c.1049C>A | NP_000347.2:p.Ala350Glu | |
| NM_001008657.3:c.1280C>A | NP_001008657.1:p.Ala427Glu | |
| NM_001135244.2:c.1280C>A | NP_001128716.1:p.Ala427Glu | |
| NM_001135245.2:c.1049C>A | NP_001128717.1:p.Ala350Glu | |
| NM_001195141.2:c.1280C>A | NP_001182070.1:p.Ala427Glu | |
| NM_001371623.1:c.1280C>A MANE Select | NP_001358552.1:p.Ala427Glu | |
| NM_001135243.2:c.1280C>A | NP_001128715.1:p.Ala427Glu |