Linked Data
ClinVar Variation Id:
1493561
ClinVar RCV Id:
RCV002012672
dbSNP Id:
rs748111365
ExAC:
5:131729450 G / C
gnomAD v2:
5-131729450-G-C
gnomAD v3:
5-132393758-G-C
gnomAD v4:
5-132393758-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393758G>C , CM000667.2:g.132393758G>C | GRCh38 |
| NC_000005.9:g.131729450G>C , CM000667.1:g.131729450G>C | GRCh37 |
| NC_000005.8:g.131757349G>C | NCBI36 |
| NG_008982.1:g.29050G>C | |
| NG_008982.2:g.29055G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-427G>C | ENSP00000388838.2:n.1292-427G>C | |
| ENST00000435065.7:c.1605G>C | ENSP00000402760.2:p.Glu535Asp | |
| ENST00000448810.6:c.*385G>C | ENSP00000401860.2:n.*385G>C | |
| ENST00000685543.1:n.1674G>C | ||
| ENST00000686757.1:c.*697G>C | ENSP00000510721.1:n.*697G>C | |
| ENST00000686868.1:n.525G>C | ||
| ENST00000687740.1:n.4218G>C | ||
| ENST00000688151.1:n.2843G>C | ||
| ENST00000689271.1:c.1380G>C | ENSP00000510797.1:p.Glu460Asp | |
| ENST00000690900.1:c.*697G>C | ENSP00000510703.1:n.*697G>C | |
| ENST00000692212.1:n.4673G>C | ||
| ENST00000692355.1:c.786G>C | ||
| ENST00000692413.1:c.1515G>C | ENSP00000509374.1:p.Glu505Asp | |
| ENST00000692825.1:c.1601G>C | ENSP00000509447.1:n.1601G>C | |
| ENST00000693308.1:c.1581G>C | ENSP00000509770.1:p.Glu527Asp | |
| ENST00000693763.1:n.2693G>C | ||
| ENST00000245407.8:c.1533G>C MANE Select | ENSP00000245407.3:p.Glu511Asp | |
| ENST00000245407.7:c.1533G>C | ENSP00000245407.3:p.Glu511Asp | |
| ENST00000435065.6:c.1605G>C | ENSP00000402760.2:p.Glu535Asp | |
| ENST00000447841.5:c.377G>C | ||
| ENST00000448810.5:c.795G>C | ||
| ENST00000461013.5:n.8955G>C | ||
| ENST00000475308.1:n.2211G>C | ||
| NM_001308122.1:c.1605G>C | NP_001295051.1:p.Glu535Asp | |
| NM_003060.3:c.1533G>C | NP_003051.1:p.Glu511Asp | |
| XM_011543590.1:c.915G>C | XP_011541892.1:p.Glu305Asp | |
| XR_948290.1:n.1659G>C | ||
| XM_011543590.2:c.915G>C | XP_011541892.1:p.Glu305Asp | |
| XM_017009778.2:c.1005G>C | XP_016865267.1:p.Glu335Asp | |
| XR_001742215.1:n.1788G>C | ||
| XR_001742216.1:n.1807G>C | ||
| XR_427718.2:n.1893G>C | ||
| XR_948290.2:n.1659G>C | ||
| XR_948291.2:n.1887G>C | ||
| NM_003060.4:c.1533G>C MANE Select | NP_003051.1:p.Glu511Asp | |
| NM_001308122.2:c.1605G>C | NP_001295051.1:p.Glu535Asp |