Linked Data
ClinVar Variation Id:
485495
dbSNP Id:
rs1264069202
gnomAD v2:
12-58144491-G-A
gnomAD v3:
12-57750708-G-A
gnomAD v4:
12-57750708-G-A
PubMed:
PMID:22932448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750708G>A , CM000674.2:g.57750708G>A | GRCh38 |
| NC_000012.11:g.58144491G>A , CM000674.1:g.58144491G>A | GRCh37 |
| NC_000012.10:g.56430758G>A | NCBI36 |
| NG_007484.2:g.6674C>T , LRG_490:g.6674C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.580C>T MANE Select | ENSP00000257904.5:p.Pro194Ser | |
| ENST00000257904.10:c.580C>T | ENSP00000257904.5:p.Pro194Ser | |
| ENST00000312990.10:c.265-37C>T | ENSP00000316889.6:n.265-37C>T | |
| ENST00000546489.5:c.358C>T | ENSP00000447779.1:p.Pro120Ser | |
| ENST00000547281.5:c.358C>T | ENSP00000447274.1:p.Pro120Ser | |
| ENST00000549606.5:c.-157-1204C>T | ENSP00000447005.1:n.-157-1204C>T | |
| ENST00000550419.5:c.523-145C>T | ENSP00000448098.1:n.523-145C>T | |
| ENST00000551800.5:c.358C>T | ENSP00000449391.1:p.Pro120Ser | |
| ENST00000551888.5:n.443-37C>T | ||
| ENST00000552254.5:c.580C>T | ENSP00000449179.1:p.Pro194Ser | |
| ENST00000553237.5:c.*219C>T | ENSP00000448885.1:n.*219C>T | |
| NM_000075.3:c.580C>T | NP_000066.1:p.Pro194Ser | |
| NM_000075.4:c.580C>T MANE Select | NP_000066.1:p.Pro194Ser |