Linked Data
ClinVar Variation Id:
2877281
ClinVar RCV Id:
RCV003633239
dbSNP Id:
rs777899653
gnomAD v3:
15-80159870-C-A
gnomAD v4:
15-80159870-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80159870C>A , CM000677.2:g.80159870C>A | GRCh38 |
| NC_000015.9:g.80452212C>A , CM000677.1:g.80452212C>A | GRCh37 |
| NC_000015.8:g.78239267C>A | NCBI36 |
| NG_012833.1:g.11872C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.307C>A | ENSP00000507680.1:p.Arg103= | |
| ENST00000682012.1:n.382C>A | ||
| ENST00000683593.1:n.184C>A | ||
| ENST00000684363.1:c.307C>A | ENSP00000507314.1:p.Arg103= | |
| ENST00000684569.1:n.352C>A | ||
| ENST00000561421.6:c.307C>A MANE Select | ENSP00000453347.2:p.Arg103= | |
| ENST00000646551.1:n.1794C>A | ||
| ENST00000261755.9:c.307C>A | ENSP00000261755.5:p.Arg103= | |
| ENST00000407106.5:c.307C>A | ENSP00000385080.1:p.Arg103= | |
| ENST00000537726.5:n.389C>A | ||
| ENST00000539156.5:c.97C>A | ENSP00000454271.1:p.Arg33= | |
| ENST00000558022.5:c.307C>A | ENSP00000453152.1:p.Arg103= | |
| ENST00000558767.5:n.568C>A | ||
| ENST00000561369.1:n.387C>A | ||
| ENST00000561421.5:c.307C>A | ENSP00000453347.1:p.Arg103= | |
| NM_000137.2:c.307C>A | NP_000128.1:p.Arg103= | |
| XM_024449872.1:c.307C>A | XP_024305640.1:p.Arg103= | |
| NM_000137.4:c.307C>A MANE Select | NP_000128.1:p.Arg103= | |
| NM_001374377.1:c.307C>A | NP_001361306.1:p.Arg103= | |
| NM_001374380.1:c.307C>A | NP_001361309.1:p.Arg103= |