Linked Data
ClinVar Variation Id:
345660
ClinVar RCV Id:
RCV000264755
dbSNP Id:
rs771754714
ExAC:
3:47041712 G / A
gnomAD v2:
3-47041712-G-A
gnomAD v3:
3-47000222-G-A
gnomAD v4:
3-47000222-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47000222G>A , CM000665.2:g.47000222G>A | GRCh38 |
| NC_000003.11:g.47041712G>A , CM000665.1:g.47041712G>A | GRCh37 |
| NC_000003.10:g.47016716G>A | NCBI36 |
| NG_031914.1:g.25540G>A , LRG_568:g.25540G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.4123G>A MANE Select | ENSP00000415034.2:p.Gly1375Ser | |
| ENST00000651747.1:c.4021G>A | ENSP00000499216.1:p.Gly1341Ser | |
| ENST00000652744.1:n.460G>A | ||
| ENST00000416683.5:c.1986G>A | ||
| ENST00000450053.7:c.4123G>A | ENSP00000415034.2:p.Gly1375Ser | |
| NM_015175.2:c.4123G>A , LRG_568t1:c.4123G>A | NP_055990.1:p.Gly1375Ser | |
| XM_005264992.2:c.4021G>A | XP_005265049.1:p.Gly1341Ser | |
| XM_005264993.2:c.595G>A | XP_005265050.1:p.Gly199Ser | |
| XM_006713072.2:c.4042G>A | XP_006713135.1:p.Gly1348Ser | |
| XM_011533532.1:c.4102G>A | XP_011531834.1:p.Gly1368Ser | |
| XM_011533533.1:c.4123G>A | XP_011531835.1:p.Gly1375Ser | |
| XM_011533534.1:c.3754G>A | XP_011531836.1:p.Gly1252Ser | |
| XM_011533535.1:c.3583G>A | XP_011531837.1:p.Gly1195Ser | |
| XM_011533536.1:c.3469G>A | XP_011531838.1:p.Gly1157Ser | |
| XM_011533537.1:c.3031G>A | XP_011531839.1:p.Gly1011Ser | |
| XR_940397.1:n.4299G>A | ||
| XR_940398.1:n.4299G>A | ||
| NM_001365116.1:c.4021G>A | NP_001352045.1:p.Gly1341Ser | |
| XM_006713072.3:c.4042G>A | XP_006713135.1:p.Gly1348Ser | |
| XM_011533533.2:c.4123G>A | XP_011531835.1:p.Gly1375Ser | |
| XM_017006010.1:c.4123G>A | XP_016861499.1:p.Gly1375Ser | |
| XM_017006011.1:c.4102G>A | XP_016861500.1:p.Gly1368Ser | |
| XM_017006012.1:c.4042G>A | XP_016861501.1:p.Gly1348Ser | |
| XM_017006013.1:c.4123G>A | XP_016861502.1:p.Gly1375Ser | |
| XM_017006014.1:c.4021G>A | XP_016861503.1:p.Gly1341Ser | |
| XM_017006015.1:c.3754G>A | XP_016861504.1:p.Gly1252Ser | |
| XM_017006016.1:c.3583G>A | XP_016861505.1:p.Gly1195Ser | |
| XM_017006017.1:c.595G>A | XP_016861506.1:p.Gly199Ser | |
| XR_940397.2:n.4299G>A | ||
| NM_001365116.2:c.4021G>A | NP_001352045.1:p.Gly1341Ser | |
| NM_015175.3:c.4123G>A MANE Select | NP_055990.1:p.Gly1375Ser |