Linked Data
ClinVar Variation Id:
256266
dbSNP Id:
rs805698
ExAC:
10:105816916 C / T
gnomAD v2:
10-105816916-C-T
gnomAD v3:
10-104057158-C-T
gnomAD v4:
10-104057158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104057158C>T , CM000672.2:g.104057158C>T | GRCh38 |
| NC_000010.10:g.105816916C>T , CM000672.1:g.105816916C>T | GRCh37 |
| NC_000010.9:g.105806906C>T | NCBI36 |
| NG_007069.1:g.33723G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369733.8:c.1282G>A | ENSP00000358748.3:p.Gly428Ser | |
| ENST00000648076.2:c.1282G>A MANE Select | ENSP00000497653.1:p.Gly428Ser | |
| ENST00000650263.1:c.1234G>A | ENSP00000497850.1:p.Gly412Ser | |
| ENST00000353479.9:c.1282G>A | ENSP00000340937.5:p.Gly428Ser | |
| ENST00000369733.7:c.1282G>A | ENSP00000358748.3:p.Gly428Ser | |
| NM_000494.3:c.1282G>A | NP_000485.3:p.Gly428Ser | |
| NM_000494.4:c.1282G>A MANE Select | NP_000485.3:p.Gly428Ser |