Linked Data
ClinVar Variation Id:
345676
dbSNP Id:
rs200100160
ExAC:
3:47045354 G / A
gnomAD v2:
3-47045354-G-A
gnomAD v3:
3-47003864-G-A
gnomAD v4:
3-47003864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47003864G>A , CM000665.2:g.47003864G>A | GRCh38 |
| NC_000003.11:g.47045354G>A , CM000665.1:g.47045354G>A | GRCh37 |
| NC_000003.10:g.47020358G>A | NCBI36 |
| NG_031914.1:g.29182G>A , LRG_568:g.29182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.5769G>A MANE Select | ENSP00000415034.2:p.Ser1923= | |
| ENST00000651747.1:c.5667G>A | ENSP00000499216.1:p.Ser1889= | |
| ENST00000416683.5:c.3632G>A | ||
| ENST00000443829.5:c.874G>A | ||
| ENST00000450053.7:c.5769G>A | ENSP00000415034.2:p.Ser1923= | |
| NM_015175.2:c.5769G>A , LRG_568t1:c.5769G>A | NP_055990.1:p.Ser1923= | |
| XM_005264992.2:c.5667G>A | XP_005265049.1:p.Ser1889= | |
| XM_005264993.2:c.2241G>A | XP_005265050.1:p.Ser747= | |
| XM_006713072.2:c.5688G>A | XP_006713135.1:p.Ser1896= | |
| XM_011533532.1:c.5748G>A | XP_011531834.1:p.Ser1916= | |
| XM_011533533.1:c.5769G>A | XP_011531835.1:p.Ser1923= | |
| XM_011533534.1:c.5400G>A | XP_011531836.1:p.Ser1800= | |
| XM_011533535.1:c.5229G>A | XP_011531837.1:p.Ser1743= | |
| XM_011533536.1:c.5115G>A | XP_011531838.1:p.Ser1705= | |
| XM_011533537.1:c.4677G>A | XP_011531839.1:p.Ser1559= | |
| XR_940397.1:n.5945G>A | ||
| NM_001365116.1:c.5667G>A | NP_001352045.1:p.Ser1889= | |
| XM_006713072.3:c.5688G>A | XP_006713135.1:p.Ser1896= | |
| XM_011533533.2:c.5769G>A | XP_011531835.1:p.Ser1923= | |
| XM_017006010.1:c.5769G>A | XP_016861499.1:p.Ser1923= | |
| XM_017006011.1:c.5748G>A | XP_016861500.1:p.Ser1916= | |
| XM_017006012.1:c.5688G>A | XP_016861501.1:p.Ser1896= | |
| XM_017006013.1:c.5769G>A | XP_016861502.1:p.Ser1923= | |
| XM_017006014.1:c.5667G>A | XP_016861503.1:p.Ser1889= | |
| XM_017006015.1:c.5400G>A | XP_016861504.1:p.Ser1800= | |
| XM_017006016.1:c.5229G>A | XP_016861505.1:p.Ser1743= | |
| XM_017006017.1:c.2241G>A | XP_016861506.1:p.Ser747= | |
| XR_940397.2:n.5945G>A | ||
| NM_001365116.2:c.5667G>A | NP_001352045.1:p.Ser1889= | |
| NM_015175.3:c.5769G>A MANE Select | NP_055990.1:p.Ser1923= |