Linked Data
ClinVar Variation Id:
1144088
dbSNP Id:
rs1308432668
gnomAD v2:
4-995811-C-A
gnomAD v4:
4-1002023-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002023C>A , CM000666.2:g.1002023C>A | GRCh38 |
| NC_000004.11:g.995811C>A , CM000666.1:g.995811C>A | GRCh37 |
| NC_000004.10:g.985811C>A | NCBI36 |
| NG_008103.1:g.20027C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.834C>A | ENSP00000247933.4:p.Val278= | |
| ENST00000514224.2:c.834C>A MANE Select | ENSP00000425081.2:p.Val278= | |
| ENST00000652070.1:n.890C>A | ||
| ENST00000247933.8:c.834C>A | ENSP00000247933.4:p.Val278= | |
| ENST00000514192.5:c.651C>A | ENSP00000423685.1:p.Val217= | |
| ENST00000514224.1:c.438C>A | ENSP00000425081.1:p.Val146= | |
| ENST00000514698.5:n.834C>A | ||
| NM_000203.4:c.834C>A | NP_000194.2:p.Val278= | |
| NR_110313.1:n.922C>A | ||
| XM_006713882.2:c.438C>A | XP_006713945.1:p.Val146= | |
| XM_011513459.1:c.793C>A | XP_011511761.1:p.Arg265Ser | |
| XM_011513460.1:c.693C>A | XP_011511762.1:p.Val231= | |
| XM_011513461.1:c.627C>A | XP_011511763.1:p.Val209= | |
| XM_011513462.1:c.546C>A | XP_011511764.1:p.Val182= | |
| XM_011513463.1:c.546C>A | XP_011511765.1:p.Val182= | |
| XR_924947.1:n.903C>A | ||
| NM_000203.5:c.834C>A MANE Select | NP_000194.2:p.Val278= | |
| NM_001363576.1:c.438C>A | NP_001350505.1:p.Val146= | |
| XM_011513461.2:c.627C>A | XP_011511763.1:p.Val209= | |
| XM_017008163.1:c.-127C>A | XP_016863652.1:n.-127C>A |