Linked Data
ClinVar Variation Id:
161394
ClinVar RCV Id:
RCV000152014
RCV000148891
RCV000239196
RCV000241715
RCV000337404
RCV000587520
RCV000680614
RCV001094793
RCV003935259
RCV002277295
dbSNP Id:
rs112215250
ExAC:
3:30733044 T / A
gnomAD v2:
3-30733044-T-A
gnomAD v3:
3-30691552-T-A
gnomAD v4:
3-30691552-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691552T>A , CM000665.2:g.30691552T>A | GRCh38 |
| NC_000003.11:g.30733044T>A , CM000665.1:g.30733044T>A | GRCh37 |
| NC_000003.10:g.30708048T>A | NCBI36 |
| NG_007490.1:g.90051T>A , LRG_779:g.90051T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1657T>A MANE Select | ENSP00000295754.5:p.Ser553Thr | |
| ENST00000672050.1:n.541T>A | ||
| ENST00000672866.1:n.3253T>A | ||
| ENST00000673203.1:n.535T>A | ||
| ENST00000295754.9:c.1657T>A | ENSP00000295754.5:p.Ser553Thr | |
| ENST00000359013.4:c.1732T>A | ENSP00000351905.4:p.Ser578Thr | |
| NM_001024847.2:c.1732T>A , LRG_779t1:c.1732T>A | NP_001020018.1:p.Ser578Thr | |
| NM_003242.5:c.1657T>A | NP_003233.4:p.Ser553Thr | |
| XM_011534043.1:c.1684T>A | XP_011532345.1:p.Ser562Thr | |
| XM_011534044.1:c.1609T>A | XP_011532346.1:p.Ser537Thr | |
| XM_011534045.1:c.1552T>A | XP_011532347.1:p.Ser518Thr | |
| XM_011534043.2:c.1684T>A | XP_011532345.1:p.Ser562Thr | |
| XM_011534045.3:c.1552T>A | XP_011532347.1:p.Ser518Thr | |
| XM_017007106.1:c.1552T>A | XP_016862595.1:p.Ser518Thr | |
| NM_003242.6:c.1657T>A MANE Select | NP_003233.4:p.Ser553Thr |