Linked Data
ClinVar Variation Id:
45057
dbSNP Id:
rs75909145
ExAC:
12:33049457 C / A
gnomAD v2:
12-33049457-C-A
gnomAD v3:
12-32896523-C-A
gnomAD v4:
12-32896523-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32896523C>A , CM000674.2:g.32896523C>A | GRCh38 |
| NC_000012.11:g.33049457C>A , CM000674.1:g.33049457C>A | GRCh37 |
| NC_000012.10:g.32940724C>A | NCBI36 |
| NG_009000.1:g.5324G>T , LRG_398:g.5324G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546741.3:c.209G>T | ENSP00000481383.2:p.Ser70Ile | |
| ENST00000700559.2:c.209G>T | ENSP00000515065.2:p.Ser70Ile | |
| ENST00000700563.2:c.209G>T | ENSP00000515066.2:p.Ser70Ile | |
| ENST00000700563.1:c.163G>T | ||
| ENST00000700564.1:n.213G>T | ||
| ENST00000700565.1:n.62G>T | ||
| ENST00000070846.11:c.209G>T | ENSP00000070846.6:p.Ser70Ile | |
| ENST00000340811.9:c.209G>T MANE Select | ENSP00000342800.5:p.Ser70Ile | |
| ENST00000070846.10:c.209G>T | ENSP00000070846.6:p.Ser70Ile | |
| ENST00000340811.8:c.209G>T | ENSP00000342800.4:p.Ser70Ile | |
| ENST00000546741.2:c.79G>T | ||
| ENST00000613243.1:c.209G>T | ENSP00000478295.1:p.Ser70Ile | |
| NM_001005242.2:c.209G>T | NP_001005242.2:p.Ser70Ile | |
| NM_004572.3:c.209G>T , LRG_398t1:c.209G>T | NP_004563.2:p.Ser70Ile | |
| NM_001005242.3:c.209G>T MANE Select | NP_001005242.2:p.Ser70Ile | |
| NM_004572.4:c.209G>T | NP_004563.2:p.Ser70Ile |