Linked Data
ClinVar Variation Id:
239432
dbSNP Id:
rs149091125
gnomAD v3:
1-17027760-G-T
gnomAD v4:
1-17027760-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027760G>T , CM000663.2:g.17027760G>T | GRCh38 |
| NC_000001.10:g.17354255G>T , CM000663.1:g.17354255G>T | GRCh37 |
| NC_000001.9:g.17226842G>T | NCBI36 |
| NG_012340.1:g.31411C>A , LRG_316:g.31411C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.358C>A | ENSP00000481376.2:p.Arg120Ser | |
| ENST00000491274.6:c.487C>A | ENSP00000480482.2:p.Arg163Ser | |
| ENST00000375499.8:c.529C>A MANE Select | ENSP00000364649.3:p.Arg177Ser | |
| ENST00000375499.7:c.529C>A | ENSP00000364649.3:p.Arg177Ser | |
| ENST00000463045.2:c.358C>A | ENSP00000481376.1:p.Arg120Ser | |
| ENST00000475506.1:n.446C>A | ||
| ENST00000485515.5:n.463C>A | ||
| ENST00000491274.5:c.487C>A | ENSP00000480482.1:p.Arg163Ser | |
| NM_003000.2:c.529C>A , LRG_316t1:c.529C>A | NP_002991.2:p.Arg177Ser | |
| NM_003000.3:c.529C>A MANE Select | NP_002991.2:p.Arg177Ser |