Linked Data
ClinVar Variation Id:
595032
ClinVar RCV Id:
RCV000730456
dbSNP Id:
rs1383674405
gnomAD v2:
4-995516-C-G
gnomAD v3:
4-1001728-C-G
gnomAD v4:
4-1001728-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001728C>G , CM000666.2:g.1001728C>G | GRCh38 |
| NC_000004.11:g.995516C>G , CM000666.1:g.995516C>G | GRCh37 |
| NC_000004.10:g.985516C>G | NCBI36 |
| NG_008103.1:g.19732C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.639C>G | ENSP00000247933.4:p.Ser213Arg | |
| ENST00000514224.2:c.639C>G MANE Select | ENSP00000425081.2:p.Ser213Arg | |
| ENST00000652070.1:n.695C>G | ||
| ENST00000247933.8:c.639C>G | ENSP00000247933.4:p.Ser213Arg | |
| ENST00000502910.5:c.498C>G | ENSP00000422952.1:p.Ser166Arg | |
| ENST00000509948.5:c.432C>G | ENSP00000424227.1:p.Ser144Arg | |
| ENST00000514192.5:c.456C>G | ENSP00000423685.1:p.Ser152Arg | |
| ENST00000514224.1:c.243C>G | ENSP00000425081.1:p.Ser81Arg | |
| ENST00000514698.5:n.539C>G | ||
| NM_000203.4:c.639C>G | NP_000194.2:p.Ser213Arg | |
| NR_110313.1:n.727C>G | ||
| XM_006713882.2:c.243C>G | XP_006713945.1:p.Ser81Arg | |
| XM_011513459.1:c.498C>G | XP_011511761.1:p.Ser166Arg | |
| XM_011513460.1:c.498C>G | XP_011511762.1:p.Ser166Arg | |
| XM_011513461.1:c.432C>G | XP_011511763.1:p.Ser144Arg | |
| XM_011513462.1:c.351C>G | XP_011511764.1:p.Ser117Arg | |
| XM_011513463.1:c.351C>G | XP_011511765.1:p.Ser117Arg | |
| XR_924947.1:n.708C>G | ||
| NM_000203.5:c.639C>G MANE Select | NP_000194.2:p.Ser213Arg | |
| NM_001363576.1:c.243C>G | NP_001350505.1:p.Ser81Arg | |
| XM_011513461.2:c.432C>G | XP_011511763.1:p.Ser144Arg | |
| XM_017008163.1:c.-322C>G | XP_016863652.1:n.-322C>G |