Linked Data
ClinVar Variation Id:
1667454
ClinVar RCV Id:
RCV002188992
dbSNP Id:
rs1455947188
gnomAD v2:
15-89866662-G-A
gnomAD v3:
15-89323431-G-A
gnomAD v4:
15-89323431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323431G>A , CM000677.2:g.89323431G>A | GRCh38 |
| NC_000015.9:g.89866662G>A , CM000677.1:g.89866662G>A | GRCh37 |
| NC_000015.8:g.87667666G>A | NCBI36 |
| NG_008218.1:g.16365C>T | |
| NG_008218.2:g.16365C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.2238C>T | ENSP00000516154.1:p.Gly746= | |
| ENST00000268124.11:c.2238C>T MANE Select | ENSP00000268124.5:p.Gly746= | |
| ENST00000530292.3:c.1839C>T | ENSP00000432885.2:p.Gly613= | |
| ENST00000635986.2:c.2238C>T | ENSP00000490653.2:p.Gly746= | |
| ENST00000636774.1:c.*805C>T | ENSP00000489799.1:n.*805C>T | |
| ENST00000637238.1:c.935C>T | ENSP00000490756.1:n.935C>T | |
| ENST00000637264.1:c.1310C>T | ||
| ENST00000666746.1:c.1815C>T | ||
| ENST00000670281.1:c.558C>T | ENSP00000499709.1:p.Gly186= | |
| ENST00000672071.1:n.2436C>T | ||
| ENST00000672923.2:n.2341C>T | ||
| ENST00000268124.9:c.2238C>T | ENSP00000268124.5:p.Gly746= | |
| ENST00000442287.6:c.2238C>T | ENSP00000399851.2:p.Gly746= | |
| ENST00000526314.2:c.539+384C>T | ||
| ENST00000526398.1:c.387C>T | ||
| ENST00000528881.2:c.7C>T | ||
| ENST00000532584.5:n.440C>T | ||
| ENST00000631044.2:c.*1662C>T | ENSP00000486730.1:n.*1662C>T | |
| NM_001126131.1:c.2238C>T | NP_001119603.1:p.Gly746= | |
| NM_002693.2:c.2238C>T | NP_002684.1:p.Gly746= | |
| NM_001126131.2:c.2238C>T | NP_001119603.1:p.Gly746= | |
| NM_002693.3:c.2238C>T MANE Select | NP_002684.1:p.Gly746= |