Linked Data
ClinVar Variation Id:
356367
ClinVar RCV Id:
RCV000266887
dbSNP Id:
rs886061310
gnomAD v4:
6-32843070-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843070G>T , CM000668.2:g.32843070G>T | GRCh38 |
| NC_000006.11:g.32810847G>T , CM000668.1:g.32810847G>T | GRCh37 |
| NC_000006.10:g.32918825G>T | NCBI36 |
| NG_009793.3:g.701C>A | |
| NG_028165.1:g.6866C>A | |
| NG_009793.4:g.701C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.188C>A | ||
| ENST00000697612.1:n.866C>A | ||
| ENST00000374881.3:c.155C>A | ENSP00000364015.2:p.Ser52Tyr | |
| ENST00000374882.8:c.167C>A MANE Select | ENSP00000364016.4:p.Ser56Tyr | |
| ENST00000650411.1:n.1488C>A | ||
| ENST00000650793.1:n.188C>A | ||
| ENST00000374881.2:c.155C>A | ENSP00000364015.2:p.Ser52Tyr | |
| ENST00000374882.7:c.167C>A | ENSP00000364016.3:p.Ser56Tyr | |
| ENST00000395339.7:c.167C>A | ENSP00000378748.3:p.Ser56Tyr | |
| ENST00000484003.1:n.393C>A | ||
| NM_004159.4:c.155C>A | NP_004150.1:p.Ser52Tyr | |
| NM_148919.3:c.167C>A | NP_683720.2:p.Ser56Tyr | |
| NM_148919.4:c.167C>A MANE Select | NP_683720.2:p.Ser56Tyr | |
| NM_004159.5:c.155C>A | NP_004150.1:p.Ser52Tyr |