Linked Data
ClinVar Variation Id:
300074
dbSNP Id:
rs544471829
ExAC:
10:50690880 A / T
gnomAD v2:
10-50690880-A-T
gnomAD v3:
10-49482834-A-T
gnomAD v4:
10-49482834-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49482834A>T , CM000672.2:g.49482834A>T | GRCh38 |
| NC_000010.10:g.50690880A>T , CM000672.1:g.50690880A>T | GRCh37 |
| NC_000010.9:g.50360886A>T | NCBI36 |
| NG_009442.1:g.61268T>A , LRG_465:g.61268T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2022T>A MANE Select | ENSP00000348089.5:p.Ser674= | |
| ENST00000681632.1:n.2100T>A | ||
| ENST00000681659.1:c.1863T>A | ENSP00000505631.1:p.Ser621= | |
| ENST00000355832.9:c.2022T>A | ENSP00000348089.5:p.Ser674= | |
| ENST00000623073.3:c.*414T>A | ENSP00000485650.1:n.*414T>A | |
| ENST00000623115.3:c.132T>A | ENSP00000485321.1:p.Ser44= | |
| NM_000124.3:c.2022T>A | NP_000115.1:p.Ser674= | |
| NM_001346440.1:c.2022T>A | NP_001333369.1:p.Ser674= | |
| NM_000124.4:c.2022T>A MANE Select | NP_000115.1:p.Ser674= | |
| NM_001346440.2:c.2022T>A | NP_001333369.1:p.Ser674= |