Linked Data
ClinVar Variation Id:
2302248
ClinVar RCV Id:
RCV002869330
dbSNP Id:
rs935135147
gnomAD v2:
19-49477983-G-T
gnomAD v3:
19-48974726-G-T
gnomAD v4:
19-48974726-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974726G>T , CM000681.2:g.48974726G>T | GRCh38 |
| NC_000019.9:g.49477983G>T , CM000681.1:g.49477983G>T | GRCh37 |
| NC_000019.8:g.54169795G>T | NCBI36 |
| NG_012923.1:g.23628C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1316C>A MANE Select | ENSP00000317904.3:p.Ser439Tyr | |
| ENST00000263276.6:c.1124C>A | ENSP00000263276.6:p.Ser375Tyr | |
| ENST00000323798.7:c.1316C>A | ENSP00000317904.3:p.Ser439Tyr | |
| ENST00000472004.5:n.71C>A | ||
| ENST00000496048.1:n.223C>A | ||
| NM_001161587.1:c.1124C>A | NP_001155059.1:p.Ser375Tyr | |
| NM_002103.4:c.1316C>A | NP_002094.2:p.Ser439Tyr | |
| NR_027763.1:n.1375C>A | ||
| NM_002103.5:c.1316C>A MANE Select | NP_002094.2:p.Ser439Tyr | |
| NM_001161587.2:c.1124C>A | NP_001155059.1:p.Ser375Tyr | |
| NR_027763.2:n.1331C>A |