Linked Data
ClinVar Variation Id:
2830068
ClinVar RCV Id:
RCV003755593
gnomAD v4:
4-1003584-G-A
MyVariant Identifiers:
chr4:g.997372G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003584G>A , CM000666.2:g.1003584G>A | GRCh38 |
| NC_000004.11:g.997372G>A , CM000666.1:g.997372G>A | GRCh37 |
| NC_000004.10:g.987372G>A | NCBI36 |
| NG_008103.1:g.21588G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1686G>A | ENSP00000247933.4:p.Gly562= | |
| ENST00000514224.2:c.1686G>A MANE Select | ENSP00000425081.2:p.Gly562= | |
| ENST00000652070.1:n.1742G>A | ||
| ENST00000247933.8:c.1686G>A | ENSP00000247933.4:p.Gly562= | |
| ENST00000514224.1:c.1290G>A | ENSP00000425081.1:p.Gly430= | |
| ENST00000514417.1:n.78G>A | ||
| ENST00000514698.5:n.1793G>A | ||
| NM_000203.4:c.1686G>A | NP_000194.2:p.Gly562= | |
| NR_110313.1:n.1774G>A | ||
| XM_006713882.2:c.1290G>A | XP_006713945.1:p.Gly430= | |
| XM_011513459.1:c.1752G>A | XP_011511761.1:p.Gly584= | |
| XM_011513460.1:c.1545G>A | XP_011511762.1:p.Gly515= | |
| XM_011513461.1:c.1479G>A | XP_011511763.1:p.Gly493= | |
| XM_011513462.1:c.1398G>A | XP_011511764.1:p.Gly466= | |
| XM_011513463.1:c.1398G>A | XP_011511765.1:p.Gly466= | |
| XR_924947.1:n.1942G>A | ||
| NM_000203.5:c.1686G>A MANE Select | NP_000194.2:p.Gly562= | |
| NM_001363576.1:c.1290G>A | NP_001350505.1:p.Gly430= | |
| XM_011513461.2:c.1479G>A | XP_011511763.1:p.Gly493= | |
| XM_017008163.1:c.726G>A | XP_016863652.1:p.Gly242= |