Linked Data
ClinVar Variation Id:
1647468
ClinVar RCV Id:
RCV002160602
dbSNP Id:
rs377312287
gnomAD v2:
4-995495-G-C
gnomAD v3:
4-1001707-G-C
gnomAD v4:
4-1001707-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001707G>C , CM000666.2:g.1001707G>C | GRCh38 |
| NC_000004.11:g.995495G>C , CM000666.1:g.995495G>C | GRCh37 |
| NC_000004.10:g.985495G>C | NCBI36 |
| NG_008103.1:g.19711G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.618G>C | ENSP00000247933.4:p.Ser206= | |
| ENST00000514224.2:c.618G>C MANE Select | ENSP00000425081.2:p.Ser206= | |
| ENST00000652070.1:n.674G>C | ||
| ENST00000247933.8:c.618G>C | ENSP00000247933.4:p.Ser206= | |
| ENST00000502910.5:c.477G>C | ENSP00000422952.1:p.Ser159= | |
| ENST00000504568.5:c.578G>C | ||
| ENST00000509948.5:c.411G>C | ENSP00000424227.1:p.Ser137= | |
| ENST00000514192.5:c.435G>C | ENSP00000423685.1:p.Ser145= | |
| ENST00000514224.1:c.222G>C | ENSP00000425081.1:p.Ser74= | |
| ENST00000514698.5:n.518G>C | ||
| NM_000203.4:c.618G>C | NP_000194.2:p.Ser206= | |
| NR_110313.1:n.706G>C | ||
| XM_006713882.2:c.222G>C | XP_006713945.1:p.Ser74= | |
| XM_011513459.1:c.477G>C | XP_011511761.1:p.Ser159= | |
| XM_011513460.1:c.477G>C | XP_011511762.1:p.Ser159= | |
| XM_011513461.1:c.411G>C | XP_011511763.1:p.Ser137= | |
| XM_011513462.1:c.330G>C | XP_011511764.1:p.Ser110= | |
| XM_011513463.1:c.330G>C | XP_011511765.1:p.Ser110= | |
| XR_924947.1:n.687G>C | ||
| NM_000203.5:c.618G>C MANE Select | NP_000194.2:p.Ser206= | |
| NM_001363576.1:c.222G>C | NP_001350505.1:p.Ser74= | |
| XM_011513461.2:c.411G>C | XP_011511763.1:p.Ser137= | |
| XM_017008163.1:c.-343G>C | XP_016863652.1:n.-343G>C |