Linked Data
dbSNP Id:
rs1665949951
gnomAD v4:
1-236885210-G-A
MyVariant Identifiers:
chr1:g.237048510G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236885210G>A , CM000663.2:g.236885210G>A | GRCh38 |
| NC_000001.10:g.237048510G>A , CM000663.1:g.237048510G>A | GRCh37 |
| NC_000001.9:g.235115133G>A | NCBI36 |
| NG_008959.1:g.94930G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366577.10:c.2766G>A MANE Select | ENSP00000355536.5:p.Glu922= | |
| ENST00000535889.6:c.2613G>A | ENSP00000441845.1:p.Glu871= | |
| ENST00000650888.1:c.*1808G>A | ENSP00000498393.1:n.*1808G>A | |
| ENST00000651455.1:c.*1510G>A | ENSP00000498963.1:n.*1510G>A | |
| ENST00000674797.2:c.2418G>A | ENSP00000502299.2:p.Glu806= | |
| ENST00000679569.1:n.3080G>A | ||
| ENST00000679842.1:c.2577G>A | ENSP00000506109.1:p.Glu859= | |
| ENST00000680454.1:n.3210G>A | ||
| ENST00000681102.1:c.2586G>A | ENSP00000505600.1:p.Glu862= | |
| ENST00000681177.1:c.2328G>A | ENSP00000506327.1:p.Glu776= | |
| ENST00000681937.1:n.2960G>A | ||
| ENST00000366576.3:c.1428G>A | ENSP00000355535.3:p.Glu476= | |
| ENST00000366577.9:c.2766G>A | ENSP00000355536.5:p.Glu922= | |
| ENST00000535889.5:c.2613G>A | ENSP00000441845.1:p.Glu871= | |
| NM_000254.2:c.2766G>A | NP_000245.2:p.Glu922= | |
| NM_001291939.1:c.2613G>A | NP_001278868.1:p.Glu871= | |
| NM_001291940.1:c.1545G>A | NP_001278869.1:p.Glu515= | |
| XM_005273141.3:c.2763G>A | XP_005273198.1:p.Glu921= | |
| XM_006711769.2:c.2766G>A | XP_006711832.1:p.Glu922= | |
| XM_006711770.1:c.1830G>A | XP_006711833.1:p.Glu610= | |
| XM_011544193.1:c.2577G>A | XP_011542495.1:p.Glu859= | |
| XM_011544194.1:c.2934G>A | XP_011542496.1:p.Glu978= | |
| XM_005273141.5:c.2763G>A | XP_005273198.1:p.Glu921= | |
| XM_006711770.3:c.1830G>A | XP_006711833.1:p.Glu610= | |
| XM_011544194.3:c.2934G>A | XP_011542496.1:p.Glu978= | |
| XM_017001329.2:c.2781G>A | XP_016856818.1:p.Glu927= | |
| XM_017001330.2:c.2745G>A | XP_016856819.1:p.Glu915= | |
| NM_001291940.2:c.1545G>A | NP_001278869.1:p.Glu515= | |
| NM_000254.3:c.2766G>A MANE Select | NP_000245.2:p.Glu922= |