Linked Data
ClinVar Variation Id:
744147
dbSNP Id:
rs764261615
ExAC:
2:206581085 G / A
gnomAD v2:
2-206581085-G-A
gnomAD v3:
2-205716361-G-A
gnomAD v4:
2-205716361-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.205716361G>A , CM000664.2:g.205716361G>A | GRCh38 |
| NC_000002.11:g.206581085G>A , CM000664.1:g.206581085G>A | GRCh37 |
| NC_000002.10:g.206289330G>A | NCBI36 |
| NG_029567.1:g.38862G>A | |
| NG_029567.2:g.38862G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357785.10:c.420G>A MANE Select | ENSP00000350432.5:p.Glu140= | |
| ENST00000272849.7:c.420G>A | ENSP00000272849.3:p.Glu140= | |
| ENST00000357118.8:c.420G>A | ENSP00000349632.4:p.Glu140= | |
| ENST00000357785.9:c.420G>A | ENSP00000350432.5:p.Glu140= | |
| ENST00000360409.7:c.420G>A | ENSP00000353582.3:p.Glu140= | |
| ENST00000412873.2:c.420G>A | ENSP00000407626.2:p.Glu140= | |
| ENST00000417189.5:c.420G>A | ENSP00000387519.1:p.Glu140= | |
| NM_003872.2:c.420G>A | NP_003863.2:p.Glu140= | |
| NM_018534.3:c.420G>A | NP_061004.3:p.Glu140= | |
| NM_201264.1:c.420G>A | NP_957716.1:p.Glu140= | |
| NM_201266.1:c.420G>A | NP_957718.1:p.Glu140= | |
| NM_201267.1:c.420G>A | NP_957719.1:p.Glu140= | |
| NM_201279.1:c.420G>A | NP_958436.1:p.Glu140= | |
| XM_005246933.2:c.420G>A | XP_005246990.2:p.Glu140= | |
| XM_005246934.2:c.420G>A | XP_005246991.2:p.Glu140= | |
| XR_923055.1:n.1262G>A | ||
| XR_923056.1:n.1262G>A | ||
| XR_923057.1:n.1262G>A | ||
| XM_017005187.2:c.420G>A | XP_016860676.1:p.Glu140= | |
| XM_017005188.2:c.420G>A | XP_016860677.1:p.Glu140= | |
| XR_923055.3:n.468G>A | ||
| XR_923056.3:n.468G>A | ||
| XR_923057.3:n.468G>A | ||
| NM_003872.3:c.420G>A MANE Select | NP_003863.2:p.Glu140= | |
| NM_018534.4:c.420G>A | NP_061004.3:p.Glu140= | |
| NM_201266.2:c.420G>A | NP_957718.1:p.Glu140= | |
| NM_201267.2:c.420G>A | NP_957719.1:p.Glu140= | |
| NM_201279.2:c.420G>A | NP_958436.1:p.Glu140= | |
| NM_201264.2:c.420G>A | NP_957716.1:p.Glu140= |