Linked Data
ClinVar Variation Id:
456719
dbSNP Id:
rs201826605
ExAC:
4:995578 G / C
gnomAD v2:
4-995578-G-C
gnomAD v3:
4-1001790-G-C
gnomAD v4:
4-1001790-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001790G>C , CM000666.2:g.1001790G>C | GRCh38 |
| NC_000004.11:g.995578G>C , CM000666.1:g.995578G>C | GRCh37 |
| NC_000004.10:g.985578G>C | NCBI36 |
| NG_008103.1:g.19794G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.701G>C | ENSP00000247933.4:p.Ser234Thr | |
| ENST00000514224.2:c.701G>C MANE Select | ENSP00000425081.2:p.Ser234Thr | |
| ENST00000652070.1:n.757G>C | ||
| ENST00000247933.8:c.701G>C | ENSP00000247933.4:p.Ser234Thr | |
| ENST00000502910.5:c.560G>C | ENSP00000422952.1:p.Ser187Thr | |
| ENST00000509948.5:c.494G>C | ENSP00000424227.1:p.Ser165Thr | |
| ENST00000514192.5:c.518G>C | ENSP00000423685.1:p.Ser173Thr | |
| ENST00000514224.1:c.305G>C | ENSP00000425081.1:p.Ser102Thr | |
| ENST00000514698.5:n.601G>C | ||
| NM_000203.4:c.701G>C | NP_000194.2:p.Ser234Thr | |
| NR_110313.1:n.789G>C | ||
| XM_006713882.2:c.305G>C | XP_006713945.1:p.Ser102Thr | |
| XM_011513459.1:c.560G>C | XP_011511761.1:p.Ser187Thr | |
| XM_011513460.1:c.560G>C | XP_011511762.1:p.Ser187Thr | |
| XM_011513461.1:c.494G>C | XP_011511763.1:p.Ser165Thr | |
| XM_011513462.1:c.413G>C | XP_011511764.1:p.Ser138Thr | |
| XM_011513463.1:c.413G>C | XP_011511765.1:p.Ser138Thr | |
| XR_924947.1:n.770G>C | ||
| NM_000203.5:c.701G>C MANE Select | NP_000194.2:p.Ser234Thr | |
| NM_001363576.1:c.305G>C | NP_001350505.1:p.Ser102Thr | |
| XM_011513461.2:c.494G>C | XP_011511763.1:p.Ser165Thr | |
| XM_017008163.1:c.-260G>C | XP_016863652.1:n.-260G>C |