Linked Data
ClinVar Variation Id:
128137
dbSNP Id:
rs587780215
ExAC:
16:23625401 G / C
gnomAD v2:
16-23625401-G-C
gnomAD v3:
16-23614080-G-C
gnomAD v4:
16-23614080-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23614080G>C , CM000678.2:g.23614080G>C | GRCh38 |
| NC_000016.9:g.23625401G>C , CM000678.1:g.23625401G>C | GRCh37 |
| NC_000016.8:g.23532902G>C | NCBI36 |
| NG_007406.1:g.32278C>G , LRG_308:g.32278C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3131C>G | ENSP00000460666.3:p.Thr1044Ser | |
| ENST00000565038.2:c.*606C>G | ENSP00000459882.2:n.*606C>G | |
| ENST00000566069.6:c.3125C>G | ENSP00000459237.2:p.Thr1042Ser | |
| ENST00000697377.2:c.2969C>G | ENSP00000513286.2:p.Thr990Ser | |
| ENST00000697379.2:c.3131C>G | ENSP00000513287.2:p.Thr1044Ser | |
| ENST00000561514.2:c.2240C>G | ENSP00000460666.2:p.Thr747Ser | |
| ENST00000697374.1:c.2240C>G | ENSP00000513284.1:p.Thr747Ser | |
| ENST00000697375.1:n.4472C>G | ||
| ENST00000697376.1:c.2240C>G | ENSP00000513285.1:p.Thr747Ser | |
| ENST00000697377.1:c.2078C>G | ENSP00000513286.1:p.Thr693Ser | |
| ENST00000697378.1:n.3645C>G | ||
| ENST00000697379.1:c.2240C>G | ENSP00000513287.1:p.Thr747Ser | |
| ENST00000697380.1:n.2406-6068C>G | ||
| ENST00000697381.1:n.1820C>G | ||
| ENST00000697382.1:c.2229-6068C>G | ENSP00000513288.1:n.2229-6068C>G | |
| ENST00000697383.1:c.659C>G | ENSP00000513289.1:p.Thr220Ser | |
| ENST00000261584.9:c.3125C>G MANE Select | ENSP00000261584.4:p.Thr1042Ser | |
| ENST00000261584.8:c.3125C>G | ENSP00000261584.4:p.Thr1042Ser | |
| ENST00000566069.5:c.40C>G | ||
| ENST00000568219.5:c.2240C>G | ENSP00000454703.2:p.Thr747Ser | |
| NM_024675.3:c.3125C>G , LRG_308t1:c.3125C>G | NP_078951.2:p.Thr1042Ser | |
| XM_011545946.1:c.3131C>G | XP_011544248.1:p.Thr1044Ser | |
| XM_011545947.1:c.3131C>G | XP_011544249.1:p.Thr1044Ser | |
| XM_011545948.1:c.2240C>G | XP_011544250.1:p.Thr747Ser | |
| XR_950851.1:n.3910-6068C>G | ||
| XM_011545946.2:c.3131C>G | XP_011544248.1:p.Thr1044Ser | |
| XM_011545947.2:c.3131C>G | XP_011544249.1:p.Thr1044Ser | |
| XM_011545948.2:c.2240C>G | XP_011544250.1:p.Thr747Ser | |
| XM_017023671.1:c.3119+7282C>G | XP_016879160.1:n.3119+7282C>G | |
| XM_017023672.2:c.3113+7282C>G | XP_016879161.1:n.3113+7282C>G | |
| XM_017023673.2:c.3125C>G | XP_016879162.1:p.Thr1042Ser | |
| NM_024675.4:c.3125C>G MANE Select | NP_078951.2:p.Thr1042Ser |