Linked Data
ClinVar Variation Id:
2388009
ClinVar RCV Id:
RCV002729762
dbSNP Id:
rs774547104
ExAC:
5:54529164 G / T
gnomAD v2:
5-54529164-G-T
gnomAD v3:
5-55233336-G-T
gnomAD v4:
5-55233336-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233336G>T , CM000667.2:g.55233336G>T | GRCh38 |
| NC_000005.9:g.54529164G>T , CM000667.1:g.54529164G>T | GRCh37 |
| NC_000005.8:g.54564921G>T | NCBI36 |
| NG_034201.1:g.5382C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.188C>A MANE Select | ENSP00000282572.4:p.Ser63Tyr | |
| ENST00000282572.4:c.188C>A | ENSP00000282572.4:p.Ser63Tyr | |
| ENST00000501463.2:c.188C>A | ENSP00000422485.1:p.Ser63Tyr | |
| NM_021147.4:c.188C>A | NP_066970.3:p.Ser63Tyr | |
| NR_125346.1:n.382C>A | ||
| NR_125347.1:n.382C>A | ||
| NM_021147.5:c.188C>A MANE Select | NP_066970.3:p.Ser63Tyr | |
| NR_125346.2:n.273C>A | ||
| NR_125347.2:n.273C>A |