Linked Data
ClinVar Variation Id:
236478
dbSNP Id:
rs767648174
ExAC:
1:197396763 G / A
gnomAD v2:
1-197396763-G-A
gnomAD v3:
1-197427633-G-A
gnomAD v4:
1-197427633-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427633G>A , CM000663.2:g.197427633G>A | GRCh38 |
| NC_000001.10:g.197396763G>A , CM000663.1:g.197396763G>A | GRCh37 |
| NC_000001.9:g.195663386G>A | NCBI36 |
| NG_008483.1:g.164356G>A | |
| NG_008483.2:g.231172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2308G>A MANE Select | ENSP00000356370.3:p.Gly770Ser | |
| ENST00000638467.1:c.2308G>A | ENSP00000491102.1:p.Gly770Ser | |
| ENST00000681519.1:c.1189G>A | ENSP00000505267.1:p.Gly397Ser | |
| ENST00000367397.1:c.451G>A | ENSP00000356367.1:p.Gly151Ser | |
| ENST00000367399.6:c.1972G>A | ENSP00000356369.2:p.Gly658Ser | |
| ENST00000367400.7:c.2308G>A | ENSP00000356370.3:p.Gly770Ser | |
| ENST00000480086.2:n.209G>A | ||
| ENST00000484075.5:c.2308G>A | ENSP00000433932.1:p.Gly770Ser | |
| ENST00000535699.5:c.2101G>A | ENSP00000438786.1:p.Gly701Ser | |
| ENST00000538660.5:c.2128+5677G>A | ENSP00000438091.1:n.2128+5677G>A | |
| NM_001193640.1:c.1972G>A | NP_001180569.1:p.Gly658Ser | |
| NM_001257965.1:c.2101G>A | NP_001244894.1:p.Gly701Ser | |
| NM_001257966.1:c.2128+5677G>A | NP_001244895.1:n.2128+5677G>A | |
| NM_201253.2:c.2308G>A | NP_957705.1:p.Gly770Ser | |
| NR_047563.1:n.2309G>A | ||
| NR_047564.1:n.2517G>A | ||
| XM_011509365.1:c.2308G>A | XP_011507667.1:p.Gly770Ser | |
| XM_011509366.1:c.2308G>A | XP_011507668.1:p.Gly770Ser | |
| XM_011509367.1:c.2308G>A | XP_011507669.1:p.Gly770Ser | |
| XM_011509368.1:c.1726G>A | XP_011507670.1:p.Gly576Ser | |
| XM_011509369.1:c.751G>A | XP_011507671.1:p.Gly251Ser | |
| XM_011509365.2:c.2308G>A | XP_011507667.1:p.Gly770Ser | |
| XM_011509369.2:c.751G>A | XP_011507671.1:p.Gly251Ser | |
| XM_017000851.1:c.1465G>A | XP_016856340.1:p.Gly489Ser | |
| XM_017000852.1:c.2308G>A | XP_016856341.1:p.Gly770Ser | |
| NM_201253.3:c.2308G>A MANE Select | NP_957705.1:p.Gly770Ser | |
| NM_001193640.2:c.1972G>A | NP_001180569.1:p.Gly658Ser | |
| NM_001257965.2:c.2101G>A | NP_001244894.1:p.Gly701Ser | |
| NR_047563.2:n.2261G>A | ||
| NR_047564.2:n.2469G>A | ||
| NM_001257966.2:c.2128+5677G>A | NP_001244895.1:n.2128+5677G>A |