Linked Data
ClinVar Variation Id:
3045939
ClinVar RCV Id:
RCV003951614
MyVariant Identifiers:
chr3:g.38888587A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38847096A>T , CM000665.2:g.38847096A>T | GRCh38 |
| NC_000003.11:g.38888587A>T , CM000665.1:g.38888587A>T | GRCh37 |
| NC_000003.10:g.38863591A>T | NCBI36 |
| NG_033859.1:g.108466T>A | |
| NG_033859.2:g.209891T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.4974T>A MANE Select | ENSP00000307599.3:p.Arg1658= | |
| ENST00000668754.1:c.4974T>A | ENSP00000499569.1:p.Arg1658= | |
| ENST00000675223.1:c.5053T>A | ENSP00000502481.1:n.5053T>A | |
| ENST00000675672.1:c.5028T>A | ENSP00000502446.1:n.5028T>A | |
| ENST00000675892.1:c.4794T>A | ENSP00000502318.1:p.Arg1598= | |
| ENST00000676045.1:c.5018T>A | ENSP00000501685.1:n.5018T>A | |
| ENST00000676176.1:c.4593T>A | ENSP00000501891.1:p.Arg1531= | |
| ENST00000302328.7:c.4974T>A | ENSP00000307599.3:p.Arg1658= | |
| ENST00000456224.7:c.4860T>A | ENSP00000416757.3:p.Arg1620= | |
| NM_001287223.1:c.4974T>A | NP_001274152.1:p.Arg1658= | |
| NM_014139.2:c.4974T>A | NP_054858.2:p.Arg1658= | |
| XM_011533320.1:c.4974T>A | XP_011531622.1:p.Arg1658= | |
| XM_011533321.1:c.4311T>A | XP_011531623.1:p.Arg1437= | |
| XM_011533322.1:c.3522T>A | XP_011531624.1:p.Arg1174= | |
| NM_001349253.1:c.4974T>A | NP_001336182.1:p.Arg1658= | |
| XM_011533321.2:c.4311T>A | XP_011531623.1:p.Arg1437= | |
| XM_017005647.1:c.5349T>A | XP_016861136.1:p.Arg1783= | |
| XM_017005648.1:c.4776T>A | XP_016861137.1:p.Arg1592= | |
| XM_017005650.1:c.4974T>A | XP_016861139.1:p.Arg1658= | |
| XM_017005651.1:c.4701T>A | XP_016861140.1:p.Arg1567= | |
| XM_017005653.1:c.3378T>A | XP_016861142.1:p.Arg1126= | |
| NM_001349253.2:c.4974T>A MANE Select | NP_001336182.1:p.Arg1658= | |
| NM_014139.3:c.4974T>A | NP_054858.2:p.Arg1658= |