Linked Data
ClinVar Variation Id:
2931050
ClinVar RCV Id:
RCV003782312
dbSNP Id:
rs540781909
ExAC:
12:57882857 C / G
gnomAD v2:
12-57882857-C-G
gnomAD v3:
12-57489074-C-G
gnomAD v4:
12-57489074-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57489074C>G , CM000674.2:g.57489074C>G | GRCh38 |
| NC_000012.11:g.57882857C>G , CM000674.1:g.57882857C>G | GRCh37 |
| NC_000012.10:g.56169124C>G | NCBI36 |
| NG_034077.1:g.6122C>G | |
| NG_023205.2:g.4741G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.165C>G MANE Select | ENSP00000262027.5:p.Ser55Arg | |
| ENST00000262027.9:c.165C>G | ENSP00000262027.5:p.Ser55Arg | |
| ENST00000447721.6:n.132+875C>G | ||
| ENST00000537638.6:c.165C>G | ENSP00000446168.2:p.Ser55Arg | |
| ENST00000545888.6:c.165C>G | ENSP00000439307.2:p.Ser55Arg | |
| ENST00000546481.1:n.194C>G | ||
| ENST00000547062.5:n.188C>G | ||
| ENST00000547501.5:c.165C>G | ENSP00000447145.1:p.Ser55Arg | |
| ENST00000548146.1:n.506C>G | ||
| ENST00000548674.5:n.135C>G | ||
| ENST00000548714.5:n.188C>G | ||
| ENST00000549074.5:c.165C>G | ENSP00000447258.1:p.Ser55Arg | |
| ENST00000550449.5:n.200C>G | ||
| ENST00000551431.5:c.165C>G | ENSP00000446729.1:p.Ser55Arg | |
| ENST00000551842.5:n.188C>G | ||
| ENST00000551892.1:c.109+875C>G | ENSP00000450018.1:n.109+875C>G | |
| ENST00000552007.5:c.165C>G | ENSP00000448576.1:p.Ser55Arg | |
| ENST00000553123.1:n.389C>G | ||
| ENST00000553162.5:n.188C>G | ||
| ENST00000628866.2:c.165C>G | ENSP00000486738.1:p.Ser55Arg | |
| ENST00000630571.2:c.165C>G | ENSP00000485951.1:p.Ser55Arg | |
| ENST00000630803.1:c.109+875C>G | ENSP00000486356.1:n.109+875C>G | |
| NM_004990.3:c.165C>G | NP_004981.2:p.Ser55Arg | |
| XM_006719398.2:c.-462C>G | XP_006719461.1:n.-462C>G | |
| XM_011538353.1:c.165C>G | XP_011536655.1:p.Ser55Arg | |
| XM_006719398.4:c.-462C>G | XP_006719461.1:n.-462C>G | |
| XR_001748704.2:n.188C>G | ||
| XR_002957327.1:n.188C>G | ||
| NM_004990.4:c.165C>G MANE Select | NP_004981.2:p.Ser55Arg |