Linked Data
ClinVar Variation Id:
1661
dbSNP Id:
rs28934607
gnomAD v3:
12-57764169-G-A
gnomAD v4:
12-57764169-G-A
PubMed:
PMID:9486994
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764169G>A , CM000674.2:g.57764169G>A | GRCh38 |
| NC_000012.11:g.58157952G>A , CM000674.1:g.58157952G>A | GRCh37 |
| NC_000012.10:g.56444219G>A | NCBI36 |
| NG_007076.1:g.8025C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1225C>T | ENSP00000518840.1:p.Pro409Ser | |
| ENST00000713545.1:c.*149C>T | ENSP00000518841.1:n.*149C>T | |
| ENST00000228606.9:c.1144C>T MANE Select | ENSP00000228606.4:p.Pro382Ser | |
| ENST00000228606.8:c.1144C>T | ENSP00000228606.4:p.Pro382Ser | |
| ENST00000546567.5:c.439C>T | ENSP00000449472.1:p.Pro147Ser | |
| ENST00000547344.5:n.1283C>T | ||
| NM_000785.3:c.1144C>T | NP_000776.1:p.Pro382Ser | |
| NM_000785.4:c.1144C>T MANE Select | NP_000776.1:p.Pro382Ser |