Linked Data
ClinVar Variation Id:
965335
ClinVar RCV Id:
RCV001239764
dbSNP Id:
rs1908553663
gnomAD v4:
17-63941981-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941981G>T , CM000679.2:g.63941981G>T | GRCh38 |
| NC_000017.10:g.62019341G>T , CM000679.1:g.62019341G>T | GRCh37 |
| NC_000017.9:g.59373073G>T | NCBI36 |
| NG_011699.1:g.35938C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4301C>A MANE Select | ENSP00000396320.1:p.Ser1434Tyr | |
| ENST00000578147.5:c.4301C>A | ENSP00000463963.1:p.Ser1434Tyr | |
| NM_000334.4:c.4301C>A MANE Select | NP_000325.4:p.Ser1434Tyr | |
| XM_005257566.3:c.4301C>A | XP_005257623.1:p.Ser1434Tyr |