Linked Data
ClinVar Variation Id:
440743
dbSNP Id:
rs752596663
ExAC:
1:22974028 G / A
gnomAD v2:
1-22974028-G-A
gnomAD v3:
1-22647535-G-A
gnomAD v4:
1-22647535-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22647535G>A , CM000663.2:g.22647535G>A | GRCh38 |
| NC_000001.10:g.22974028G>A , CM000663.1:g.22974028G>A | GRCh37 |
| NC_000001.9:g.22846615G>A | NCBI36 |
| NG_007565.1:g.8911G>A , LRG_24:g.8911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695749.1:c.223G>A | ENSP00000512142.1:p.Gly75Ser | |
| ENST00000695750.1:c.*462G>A | ENSP00000512143.1:n.*462G>A | |
| ENST00000695751.1:c.490G>A | ENSP00000512144.1:p.Gly164Ser | |
| ENST00000695752.1:c.*161G>A | ENSP00000512145.1:n.*161G>A | |
| ENST00000695753.1:c.223G>A | ENSP00000512146.1:p.Gly75Ser | |
| ENST00000374640.9:c.490G>A MANE Select | ENSP00000363771.4:p.Gly164Ser | |
| ENST00000374637.1:c.490G>A | ENSP00000363768.1:p.Gly164Ser | |
| ENST00000374639.7:c.490G>A | ENSP00000363770.3:p.Gly164Ser | |
| ENST00000374640.8:c.490G>A | ENSP00000363771.4:p.Gly164Ser | |
| NM_001114101.1:c.490G>A , LRG_24t1:c.490G>A | NP_001107573.1:p.Gly164Ser | |
| NM_172369.3:c.490G>A | NP_758957.2:p.Gly164Ser | |
| NM_001114101.2:c.490G>A | NP_001107573.1:p.Gly164Ser | |
| NM_001347619.1:c.490G>A | NP_001334548.1:p.Gly164Ser | |
| NM_001347620.1:c.223G>A | NP_001334549.1:p.Gly75Ser | |
| NM_172369.4:c.490G>A | NP_758957.2:p.Gly164Ser | |
| NM_172369.5:c.490G>A MANE Select | NP_758957.2:p.Gly164Ser | |
| NM_001114101.3:c.490G>A | NP_001107573.1:p.Gly164Ser | |
| NM_001347619.2:c.490G>A | NP_001334548.1:p.Gly164Ser | |
| NM_001347620.2:c.223G>A | NP_001334549.1:p.Gly75Ser |