Linked Data
dbSNP Id:
rs146540023
ExAC:
10:50678519 C / A
gnomAD v2:
10-50678519-C-A
gnomAD v4:
10-49470473-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470473C>A , CM000672.2:g.49470473C>A | GRCh38 |
| NC_000010.10:g.50678519C>A , CM000672.1:g.50678519C>A | GRCh37 |
| NC_000010.9:g.50348525C>A | NCBI36 |
| NG_009442.1:g.73629G>T , LRG_465:g.73629G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3487G>T MANE Select | ENSP00000348089.5:p.Ala1163Ser | |
| ENST00000679552.1:n.558G>T | ||
| ENST00000679871.1:n.633G>T | ||
| ENST00000679974.1:n.536G>T | ||
| ENST00000681632.1:n.4890G>T | ||
| ENST00000681659.1:c.3328G>T | ENSP00000505631.1:p.Ala1110Ser | |
| ENST00000355832.9:c.3487G>T | ENSP00000348089.5:p.Ala1163Ser | |
| ENST00000623073.3:c.*1783G>T | ENSP00000485650.1:n.*1783G>T | |
| ENST00000623115.3:c.1597G>T | ENSP00000485321.1:p.Ala533Ser | |
| ENST00000624341.3:c.1319G>T | ||
| NM_000124.3:c.3487G>T | NP_000115.1:p.Ala1163Ser | |
| XR_945953.1:n.243-1092C>A | ||
| NM_001346440.1:c.3487G>T | NP_001333369.1:p.Ala1163Ser | |
| NM_000124.4:c.3487G>T MANE Select | NP_000115.1:p.Ala1163Ser | |
| NM_001346440.2:c.3487G>T | NP_001333369.1:p.Ala1163Ser |