Linked Data
ClinVar Variation Id:
987767
ClinVar RCV Id:
RCV001269066
dbSNP Id:
rs1877434368
ERepo:
CA16020747/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894878G>A , CM000674.2:g.102894878G>A | GRCh38 |
| NC_000012.11:g.103288656G>A , CM000674.1:g.103288656G>A | GRCh37 |
| NC_000012.10:g.101812786G>A | NCBI36 |
| NG_008690.1:g.27725C>T | |
| NG_008690.2:g.68533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.209C>T MANE Select | ENSP00000448059.1:p.Ser70Phe | |
| ENST00000307000.7:c.194C>T | ENSP00000303500.2:p.Ser65Phe | |
| ENST00000546844.1:c.209C>T | ENSP00000446658.1:p.Ser70Phe | |
| ENST00000548677.2:n.296C>T | ||
| ENST00000548928.1:n.131C>T | ||
| ENST00000549111.5:n.305C>T | ||
| ENST00000550978.6:c.193C>T | ||
| ENST00000551337.5:c.209C>T | ENSP00000447620.1:p.Ser70Phe | |
| ENST00000551988.5:n.298C>T | ||
| ENST00000553106.5:c.209C>T | ENSP00000448059.1:p.Ser70Phe | |
| ENST00000635500.1:n.177C>T | ||
| NM_000277.1:c.209C>T | NP_000268.1:p.Ser70Phe | |
| XM_011538422.1:c.209C>T | XP_011536724.1:p.Ser70Phe | |
| NM_000277.2:c.209C>T | NP_000268.1:p.Ser70Phe | |
| NM_001354304.1:c.209C>T | NP_001341233.1:p.Ser70Phe | |
| XM_017019370.2:c.209C>T | XP_016874859.1:p.Ser70Phe | |
| NM_000277.3:c.209C>T MANE Select | NP_000268.1:p.Ser70Phe | |
| NM_001354304.2:c.209C>T | NP_001341233.1:p.Ser70Phe |