Linked Data
ClinVar Variation Id:
1681688
ClinVar RCV Id:
RCV002239198
dbSNP Id:
rs774655266
ExAC:
12:57883255 G / C
gnomAD v2:
12-57883255-G-C
gnomAD v4:
12-57489472-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57489472G>C , CM000674.2:g.57489472G>C | GRCh38 |
| NC_000012.11:g.57883255G>C , CM000674.1:g.57883255G>C | GRCh37 |
| NC_000012.10:g.56169522G>C | NCBI36 |
| NG_034077.1:g.6520G>C | |
| NG_023205.2:g.4343C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.328G>C MANE Select | ENSP00000262027.5:p.Gly110Arg | |
| ENST00000262027.9:c.328G>C | ENSP00000262027.5:p.Gly110Arg | |
| ENST00000447721.6:n.133-735G>C | ||
| ENST00000537638.6:c.328G>C | ENSP00000446168.2:p.Gly110Arg | |
| ENST00000545888.6:c.328G>C | ENSP00000439307.2:p.Gly110Arg | |
| ENST00000546481.1:n.514G>C | ||
| ENST00000547501.5:c.297G>C | ENSP00000447145.1:p.Arg99Ser | |
| ENST00000548674.5:n.298G>C | ||
| ENST00000548714.5:n.429G>C | ||
| ENST00000549074.5:c.200+363G>C | ENSP00000447258.1:n.200+363G>C | |
| ENST00000550449.5:n.441G>C | ||
| ENST00000551431.5:c.279+127G>C | ENSP00000446729.1:n.279+127G>C | |
| ENST00000551842.5:n.351G>C | ||
| ENST00000551892.1:c.110-806G>C | ENSP00000450018.1:n.110-806G>C | |
| ENST00000552007.5:c.200+363G>C | ENSP00000448576.1:n.200+363G>C | |
| ENST00000553123.1:n.552G>C | ||
| ENST00000553162.5:n.351G>C | ||
| ENST00000628866.2:c.279+127G>C | ENSP00000486738.1:n.279+127G>C | |
| ENST00000630571.2:c.200+363G>C | ENSP00000485951.1:n.200+363G>C | |
| ENST00000630803.1:c.110-806G>C | ENSP00000486356.1:n.110-806G>C | |
| NM_004990.3:c.328G>C | NP_004981.2:p.Gly110Arg | |
| XM_006719398.2:c.-299G>C | XP_006719461.1:n.-299G>C | |
| XM_011538353.1:c.328G>C | XP_011536655.1:p.Gly110Arg | |
| XM_006719398.4:c.-299G>C | XP_006719461.1:n.-299G>C | |
| XR_001748704.2:n.351G>C | ||
| XR_002957327.1:n.351G>C | ||
| NM_004990.4:c.328G>C MANE Select | NP_004981.2:p.Gly110Arg |