Linked Data
ClinVar Variation Id:
2168579
ClinVar RCV Id:
RCV003100390
dbSNP Id:
rs3820700
gnomAD v2:
2-73716810-G-C
gnomAD v3:
2-73489683-G-C
gnomAD v4:
2-73489683-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489683G>C , CM000664.2:g.73489683G>C | GRCh38 |
| NC_000002.11:g.73716810G>C , CM000664.1:g.73716810G>C | GRCh37 |
| NC_000002.10:g.73570318G>C | NCBI36 |
| NG_011690.1:g.108931G>C , LRG_741:g.108931G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7343G>C | ENSP00000507671.1:p.Ser2448Thr | |
| ENST00000682801.1:c.7343G>C | ENSP00000507862.1:p.Ser2448Thr | |
| ENST00000682859.1:c.7343G>C | ENSP00000508222.1:p.Ser2448Thr | |
| ENST00000683791.1:c.735G>C | ||
| ENST00000684460.1:c.4795G>C | ||
| ENST00000684548.1:c.7343G>C | ENSP00000507421.1:p.Ser2448Thr | |
| ENST00000684590.1:c.1790G>C | ENSP00000507376.1:p.Ser597Thr | |
| ENST00000684656.1:c.4795G>C | ||
| ENST00000613296.6:c.7724G>C MANE Select | ENSP00000482968.1:p.Ser2575Thr | |
| ENST00000651434.1:c.896-30092G>C | ||
| ENST00000423048.5:c.2555G>C | ENSP00000399833.1:p.Ser852Thr | |
| ENST00000484298.5:c.7598G>C | ENSP00000478155.1:p.Ser2533Thr | |
| ENST00000613296.4:c.7724G>C | ENSP00000482968.1:p.Ser2575Thr | |
| ENST00000614410.4:c.7724G>C | ENSP00000479094.1:p.Ser2575Thr | |
| ENST00000620466.4:n.1527G>C | ||
| NM_015120.4:c.7727G>C , LRG_741t1:c.7727G>C | NP_055935.4:p.Ser2576Thr | |
| NM_001378454.1:c.7724G>C MANE Select | NP_001365383.1:p.Ser2575Thr |