Linked Data
dbSNP Id:
rs942535205
gnomAD v2:
1-237015848-G-A
gnomAD v3:
1-236852548-G-A
gnomAD v4:
1-236852548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236852548G>A , CM000663.2:g.236852548G>A | GRCh38 |
| NC_000001.10:g.237015848G>A , CM000663.1:g.237015848G>A | GRCh37 |
| NC_000001.9:g.235082471G>A | NCBI36 |
| NG_008959.1:g.62268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.1723G>A MANE Select | ENSP00000355536.5:p.Gly575Arg | |
| ENST00000535889.6:c.1723G>A | ENSP00000441845.1:p.Gly575Arg | |
| ENST00000650888.1:c.*765G>A | ENSP00000498393.1:n.*765G>A | |
| ENST00000651455.1:c.*467G>A | ENSP00000498963.1:n.*467G>A | |
| ENST00000674797.2:c.1375G>A | ENSP00000502299.2:p.Gly459Arg | |
| ENST00000679569.1:n.2037G>A | ||
| ENST00000679842.1:c.1723G>A | ENSP00000506109.1:p.Gly575Arg | |
| ENST00000680454.1:n.2167G>A | ||
| ENST00000681102.1:c.1543G>A | ENSP00000505600.1:p.Gly515Arg | |
| ENST00000681177.1:c.1516-7285G>A | ENSP00000506327.1:n.1516-7285G>A | |
| ENST00000681937.1:n.2148-7285G>A | ||
| ENST00000366576.3:c.385G>A | ENSP00000355535.3:p.Gly129Arg | |
| ENST00000366577.9:c.1723G>A | ENSP00000355536.5:p.Gly575Arg | |
| ENST00000463959.1:n.1742G>A | ||
| ENST00000535889.5:c.1723G>A | ENSP00000441845.1:p.Gly575Arg | |
| NM_000254.2:c.1723G>A | NP_000245.2:p.Gly575Arg | |
| NM_001291939.1:c.1723G>A | NP_001278868.1:p.Gly575Arg | |
| NM_001291940.1:c.502G>A | NP_001278869.1:p.Gly168Arg | |
| XM_005273141.3:c.1720G>A | XP_005273198.1:p.Gly574Arg | |
| XM_006711769.2:c.1723G>A | XP_006711832.1:p.Gly575Arg | |
| XM_006711770.1:c.787G>A | XP_006711833.1:p.Gly263Arg | |
| XM_011544193.1:c.1723G>A | XP_011542495.1:p.Gly575Arg | |
| XM_011544194.1:c.1891G>A | XP_011542496.1:p.Gly631Arg | |
| XM_005273141.5:c.1720G>A | XP_005273198.1:p.Gly574Arg | |
| XM_006711770.3:c.787G>A | XP_006711833.1:p.Gly263Arg | |
| XM_011544194.3:c.1891G>A | XP_011542496.1:p.Gly631Arg | |
| XM_017001329.2:c.1891G>A | XP_016856818.1:p.Gly631Arg | |
| XM_017001330.2:c.1891G>A | XP_016856819.1:p.Gly631Arg | |
| NM_001291940.2:c.502G>A | NP_001278869.1:p.Gly168Arg | |
| NM_000254.3:c.1723G>A MANE Select | NP_000245.2:p.Gly575Arg |