Linked Data
ClinVar Variation Id:
2142189
ClinVar RCV Id:
RCV003058936
dbSNP Id:
rs552852063
ExAC:
3:38888250 G / A
gnomAD v2:
3-38888250-G-A
gnomAD v3:
3-38846759-G-A
gnomAD v4:
3-38846759-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38846759G>A , CM000665.2:g.38846759G>A | GRCh38 |
| NC_000003.11:g.38888250G>A , CM000665.1:g.38888250G>A | GRCh37 |
| NC_000003.10:g.38863254G>A | NCBI36 |
| NG_033859.1:g.108803C>T | |
| NG_033859.2:g.210228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.5311C>T MANE Select | ENSP00000307599.3:p.Gln1771Ter | |
| ENST00000668754.1:c.5311C>T | ENSP00000499569.1:p.Gln1771Ter | |
| ENST00000675223.1:c.5390C>T | ENSP00000502481.1:n.5390C>T | |
| ENST00000675672.1:c.5365C>T | ENSP00000502446.1:n.5365C>T | |
| ENST00000675892.1:c.5131C>T | ENSP00000502318.1:p.Gln1711Ter | |
| ENST00000676045.1:c.5355C>T | ENSP00000501685.1:n.5355C>T | |
| ENST00000676176.1:c.4930C>T | ENSP00000501891.1:p.Gln1644Ter | |
| ENST00000302328.7:c.5311C>T | ENSP00000307599.3:p.Gln1771Ter | |
| ENST00000456224.7:c.5197C>T | ENSP00000416757.3:p.Gln1733Ter | |
| NM_001287223.1:c.5311C>T | NP_001274152.1:p.Gln1771Ter | |
| NM_014139.2:c.5311C>T | NP_054858.2:p.Gln1771Ter | |
| XM_011533320.1:c.5311C>T | XP_011531622.1:p.Gln1771Ter | |
| XM_011533321.1:c.4648C>T | XP_011531623.1:p.Gln1550Ter | |
| XM_011533322.1:c.3859C>T | XP_011531624.1:p.Gln1287Ter | |
| NM_001349253.1:c.5311C>T | NP_001336182.1:p.Gln1771Ter | |
| XM_011533321.2:c.4648C>T | XP_011531623.1:p.Gln1550Ter | |
| XM_017005647.1:c.5686C>T | XP_016861136.1:p.Gln1896Ter | |
| XM_017005648.1:c.5113C>T | XP_016861137.1:p.Gln1705Ter | |
| XM_017005650.1:c.5311C>T | XP_016861139.1:p.Gln1771Ter | |
| XM_017005651.1:c.5038C>T | XP_016861140.1:p.Gln1680Ter | |
| XM_017005653.1:c.3715C>T | XP_016861142.1:p.Gln1239Ter | |
| NM_001349253.2:c.5311C>T MANE Select | NP_001336182.1:p.Gln1771Ter | |
| NM_014139.3:c.5311C>T | NP_054858.2:p.Gln1771Ter |