Linked Data
ClinVar Variation Id:
287965
ClinVar RCV Id:
RCV002317820
dbSNP Id:
rs146433240
ExAC:
10:112337235 A / T
gnomAD v2:
10-112337235-A-T
gnomAD v3:
10-110577477-A-T
gnomAD v4:
10-110577477-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110577477A>T , CM000672.2:g.110577477A>T | GRCh38 |
| NC_000010.10:g.112337235A>T , CM000672.1:g.112337235A>T | GRCh37 |
| NC_000010.9:g.112327225A>T | NCBI36 |
| NG_012217.1:g.14787A>T , LRG_774:g.14787A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684988.1:n.388A>T | ||
| ENST00000687823.1:n.169A>T | ||
| ENST00000689932.1:n.2318A>T | ||
| ENST00000691297.1:n.388A>T | ||
| ENST00000691527.1:n.345A>T | ||
| ENST00000692792.1:n.374A>T | ||
| ENST00000361804.5:c.255A>T MANE Select | ENSP00000354720.5:p.Ser85= | |
| ENST00000361804.4:c.255A>T | ENSP00000354720.4:p.Ser85= | |
| ENST00000462899.1:n.401A>T | ||
| NM_005445.3:c.255A>T , LRG_774t1:c.255A>T | NP_005436.1:p.Ser85= | |
| NM_005445.4:c.255A>T MANE Select | NP_005436.1:p.Ser85= |