Linked Data
ClinVar Variation Id:
2054956
ClinVar RCV Id:
RCV002933090
MyVariant Identifiers:
chr4:g.997222G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003434G>A , CM000666.2:g.1003434G>A | GRCh38 |
| NC_000004.11:g.997222G>A , CM000666.1:g.997222G>A | GRCh37 |
| NC_000004.10:g.987222G>A | NCBI36 |
| NG_008103.1:g.21438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1614G>A | ENSP00000247933.4:p.Val538= | |
| ENST00000514224.2:c.1614G>A MANE Select | ENSP00000425081.2:p.Val538= | |
| ENST00000652070.1:n.1670G>A | ||
| ENST00000247933.8:c.1614G>A | ENSP00000247933.4:p.Val538= | |
| ENST00000514224.1:c.1218G>A | ENSP00000425081.1:p.Val406= | |
| ENST00000514417.1:n.6G>A | ||
| ENST00000514698.5:n.1721G>A | ||
| NM_000203.4:c.1614G>A | NP_000194.2:p.Val538= | |
| NR_110313.1:n.1702G>A | ||
| XM_006713882.2:c.1218G>A | XP_006713945.1:p.Val406= | |
| XM_011513459.1:c.1680G>A | XP_011511761.1:p.Val560= | |
| XM_011513460.1:c.1473G>A | XP_011511762.1:p.Val491= | |
| XM_011513461.1:c.1407G>A | XP_011511763.1:p.Val469= | |
| XM_011513462.1:c.1326G>A | XP_011511764.1:p.Val442= | |
| XM_011513463.1:c.1326G>A | XP_011511765.1:p.Val442= | |
| XR_924947.1:n.1870G>A | ||
| NM_000203.5:c.1614G>A MANE Select | NP_000194.2:p.Val538= | |
| NM_001363576.1:c.1218G>A | NP_001350505.1:p.Val406= | |
| XM_011513461.2:c.1407G>A | XP_011511763.1:p.Val469= | |
| XM_017008163.1:c.654G>A | XP_016863652.1:p.Val218= |