Linked Data
ClinVar Variation Id:
458687
ClinVar RCV Id:
RCV001546202
dbSNP Id:
rs775576189
ExAC:
15:89870555 C / T
gnomAD v2:
15-89870555-C-T
gnomAD v3:
15-89327324-C-T
gnomAD v4:
15-89327324-C-T
COSMIC:
COSM6283894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89327324C>T , CM000677.2:g.89327324C>T | GRCh38 |
| NC_000015.9:g.89870555C>T , CM000677.1:g.89870555C>T | GRCh37 |
| NC_000015.8:g.87671559C>T | NCBI36 |
| NG_008218.1:g.12472G>A | |
| NG_008218.2:g.12472G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.1276G>A | ENSP00000516154.1:p.Gly426Ser | |
| ENST00000268124.11:c.1276G>A MANE Select | ENSP00000268124.5:p.Gly426Ser | |
| ENST00000530292.3:c.877G>A | ENSP00000432885.2:p.Gly293Ser | |
| ENST00000635986.2:c.1276G>A | ENSP00000490653.2:p.Gly426Ser | |
| ENST00000636774.1:c.1276G>A | ENSP00000489799.1:p.Gly426Ser | |
| ENST00000637238.1:c.13G>A | ENSP00000490756.1:p.Gly5Ser | |
| ENST00000637264.1:c.348G>A | ||
| ENST00000666746.1:c.853G>A | ||
| ENST00000672071.1:n.1474G>A | ||
| ENST00000672923.2:n.1379G>A | ||
| ENST00000268124.9:c.1276G>A | ENSP00000268124.5:p.Gly426Ser | |
| ENST00000442287.6:c.1276G>A | ENSP00000399851.2:p.Gly426Ser | |
| ENST00000532363.2:n.134G>A | ||
| ENST00000631044.2:c.*659G>A | ENSP00000486730.1:n.*659G>A | |
| NM_001126131.1:c.1276G>A | NP_001119603.1:p.Gly426Ser | |
| NM_002693.2:c.1276G>A | NP_002684.1:p.Gly426Ser | |
| NM_001126131.2:c.1276G>A | NP_001119603.1:p.Gly426Ser | |
| NM_002693.3:c.1276G>A MANE Select | NP_002684.1:p.Gly426Ser |