Linked Data
ClinVar Variation Id:
771552
ClinVar RCV Id:
RCV001436738
dbSNP Id:
rs557653092
ExAC:
1:197403972 A / G
gnomAD v2:
1-197403972-A-G
gnomAD v3:
1-197434842-A-G
gnomAD v4:
1-197434842-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197434842A>G , CM000663.2:g.197434842A>G | GRCh38 |
| NC_000001.10:g.197403972A>G , CM000663.1:g.197403972A>G | GRCh37 |
| NC_000001.9:g.195670595A>G | NCBI36 |
| NG_008483.1:g.171565A>G | |
| NG_008483.2:g.238381A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2979A>G MANE Select | ENSP00000356370.3:p.Glu993= | |
| ENST00000638467.1:c.2979A>G | ENSP00000491102.1:p.Glu993= | |
| ENST00000681519.1:c.1860A>G | ENSP00000505267.1:p.Glu620= | |
| ENST00000367397.1:c.1122A>G | ENSP00000356367.1:p.Glu374= | |
| ENST00000367399.6:c.2643A>G | ENSP00000356369.2:p.Glu881= | |
| ENST00000367400.7:c.2979A>G | ENSP00000356370.3:p.Glu993= | |
| ENST00000484075.5:c.2979A>G | ENSP00000433932.1:p.Glu993= | |
| ENST00000535699.5:c.2907A>G | ENSP00000438786.1:p.Glu969= | |
| ENST00000538660.5:c.2129-758A>G | ENSP00000438091.1:n.2129-758A>G | |
| NM_001193640.1:c.2643A>G | NP_001180569.1:p.Glu881= | |
| NM_001257965.1:c.2907A>G | NP_001244894.1:p.Glu969= | |
| NM_001257966.1:c.2129-758A>G | NP_001244895.1:n.2129-758A>G | |
| NM_201253.2:c.2979A>G | NP_957705.1:p.Glu993= | |
| NR_047563.1:n.2980A>G | ||
| NR_047564.1:n.3188A>G | ||
| XM_011509365.1:c.2979A>G | XP_011507667.1:p.Glu993= | |
| XM_011509366.1:c.2979A>G | XP_011507668.1:p.Glu993= | |
| XM_011509367.1:c.2979A>G | XP_011507669.1:p.Glu993= | |
| XM_011509368.1:c.2397A>G | XP_011507670.1:p.Glu799= | |
| XM_011509369.1:c.1422A>G | XP_011507671.1:p.Glu474= | |
| XM_011509365.2:c.2979A>G | XP_011507667.1:p.Glu993= | |
| XM_011509369.2:c.1422A>G | XP_011507671.1:p.Glu474= | |
| XM_017000851.1:c.2136A>G | XP_016856340.1:p.Glu712= | |
| XM_017000852.1:c.3114A>G | XP_016856341.1:p.Glu1038= | |
| NM_201253.3:c.2979A>G MANE Select | NP_957705.1:p.Glu993= | |
| NM_001193640.2:c.2643A>G | NP_001180569.1:p.Glu881= | |
| NM_001257965.2:c.2907A>G | NP_001244894.1:p.Glu969= | |
| NR_047563.2:n.2932A>G | ||
| NR_047564.2:n.3140A>G | ||
| NM_001257966.2:c.2129-758A>G | NP_001244895.1:n.2129-758A>G |