Linked Data
ClinVar Variation Id:
1285451
ClinVar RCV Id:
RCV001706807
dbSNP Id:
rs781925968
ExAC:
22:19164412 G / A
gnomAD v2:
22-19164412-G-A
gnomAD v3:
22-19176899-G-A
gnomAD v4:
22-19176899-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176899G>A , CM000684.2:g.19176899G>A | GRCh38 |
| NC_000022.10:g.19164412G>A , CM000684.1:g.19164412G>A | GRCh37 |
| NC_000022.9:g.17544412G>A | NCBI36 |
| NG_033863.1:g.6965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.578C>T MANE Select | ENSP00000215882.5:p.Ser193Leu | |
| ENST00000215882.9:c.578C>T | ENSP00000215882.5:p.Ser193Leu | |
| ENST00000451283.5:c.269C>T | ENSP00000401480.1:p.Ser90Leu | |
| ENST00000461267.1:n.724C>T | ||
| ENST00000470922.5:n.720C>T | ||
| NM_001256534.1:c.599C>T | NP_001243463.1:p.Ser200Leu | |
| NM_001287387.1:c.269C>T | NP_001274316.1:p.Ser90Leu | |
| NM_005984.4:c.578C>T | NP_005975.1:p.Ser193Leu | |
| NR_046298.2:n.629C>T | ||
| NM_005984.5:c.578C>T MANE Select | NP_005975.1:p.Ser193Leu | |
| NM_001256534.2:c.599C>T | NP_001243463.1:p.Ser200Leu | |
| NM_001287387.2:c.269C>T | NP_001274316.1:p.Ser90Leu | |
| NR_046298.3:n.502C>T |