Linked Data
ClinVar Variation Id:
1924316
ClinVar RCV Id:
RCV002634782
gnomAD v4:
4-1002140-C-G
MyVariant Identifiers:
chr4:g.995928C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002140C>G , CM000666.2:g.1002140C>G | GRCh38 |
| NC_000004.11:g.995928C>G , CM000666.1:g.995928C>G | GRCh37 |
| NC_000004.10:g.985928C>G | NCBI36 |
| NG_008103.1:g.20144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.951C>G | ENSP00000247933.4:p.Thr317= | |
| ENST00000514224.2:c.951C>G MANE Select | ENSP00000425081.2:p.Thr317= | |
| ENST00000652070.1:n.1007C>G | ||
| ENST00000247933.8:c.951C>G | ENSP00000247933.4:p.Thr317= | |
| ENST00000514224.1:c.555C>G | ENSP00000425081.1:p.Thr185= | |
| ENST00000514698.5:n.951C>G | ||
| NM_000203.4:c.951C>G | NP_000194.2:p.Thr317= | |
| NR_110313.1:n.1039C>G | ||
| XM_006713882.2:c.555C>G | XP_006713945.1:p.Thr185= | |
| XM_011513459.1:c.910C>G | XP_011511761.1:p.Leu304Val | |
| XM_011513460.1:c.810C>G | XP_011511762.1:p.Thr270= | |
| XM_011513461.1:c.744C>G | XP_011511763.1:p.Thr248= | |
| XM_011513462.1:c.663C>G | XP_011511764.1:p.Thr221= | |
| XM_011513463.1:c.663C>G | XP_011511765.1:p.Thr221= | |
| XR_924947.1:n.1020C>G | ||
| NM_000203.5:c.951C>G MANE Select | NP_000194.2:p.Thr317= | |
| NM_001363576.1:c.555C>G | NP_001350505.1:p.Thr185= | |
| XM_011513461.2:c.744C>G | XP_011511763.1:p.Thr248= | |
| XM_017008163.1:c.-10C>G | XP_016863652.1:n.-10C>G |