Linked Data
ClinVar Variation Id:
36094
ClinVar RCV Id:
RCV000029756
dbSNP Id:
rs193922218
gnomAD v4:
15-48644714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48644714G>A , CM000677.2:g.48644714G>A | GRCh38 |
| NC_000015.9:g.48936911G>A , CM000677.1:g.48936911G>A | GRCh37 |
| NC_000015.8:g.46724203G>A | NCBI36 |
| NG_008805.2:g.6075C>T , LRG_778:g.6075C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.56C>T | ENSP00000453958.2:p.Ser19Phe | |
| ENST00000674301.2:c.56C>T | ENSP00000501333.2:p.Ser19Phe | |
| ENST00000316623.10:c.56C>T MANE Select | ENSP00000325527.5:p.Ser19Phe | |
| ENST00000316623.9:c.56C>T | ENSP00000325527.5:p.Ser19Phe | |
| ENST00000537463.6:c.56C>T | ENSP00000440294.2:p.Ser19Phe | |
| ENST00000558230.1:n.119C>T | ||
| ENST00000560355.1:c.56C>T | ENSP00000453901.1:p.Ser19Phe | |
| NM_000138.4:c.56C>T , LRG_778t1:c.56C>T | NP_000129.3:p.Ser19Phe | |
| NM_000138.5:c.56C>T MANE Select | NP_000129.3:p.Ser19Phe |