Linked Data
ClinVar Variation Id:
2404641
ClinVar RCV Id:
RCV002769438
dbSNP Id:
rs201163362
ExAC:
11:74907584 C / T
gnomAD v2:
11-74907584-C-T
gnomAD v3:
11-75196539-C-T
gnomAD v4:
11-75196539-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75196539C>T , CM000673.2:g.75196539C>T | GRCh38 |
| NC_000011.9:g.74907584C>T , CM000673.1:g.74907584C>T | GRCh37 |
| NC_000011.8:g.74585232C>T | NCBI36 |
| NG_027921.1:g.50553C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000289575.10:c.1459C>T MANE Select | ENSP00000289575.5:p.Pro487Ser | |
| ENST00000289575.9:c.1459C>T | ENSP00000289575.5:p.Pro487Ser | |
| ENST00000428359.6:c.1393C>T | ENSP00000388912.2:p.Pro465Ser | |
| ENST00000454962.6:c.778C>T | ENSP00000389653.2:p.Pro260Ser | |
| ENST00000525650.5:c.1027C>T | ENSP00000436324.1:p.Pro343Ser | |
| ENST00000528108.1:n.265C>T | ||
| ENST00000530012.1:n.286C>T | ||
| ENST00000531756.5:n.1006C>T | ||
| ENST00000532236.5:c.1111C>T | ENSP00000434112.1:p.Pro371Ser | |
| NM_001145211.2:c.1393C>T | NP_001138683.1:p.Pro465Ser | |
| NM_001145212.2:c.1027C>T | NP_001138684.1:p.Pro343Ser | |
| NM_007256.4:c.1459C>T | NP_009187.1:p.Pro487Ser | |
| XM_017017157.1:c.1465C>T | XP_016872646.1:p.Pro489Ser | |
| NM_001145211.3:c.1393C>T | NP_001138683.1:p.Pro465Ser | |
| NM_001145212.3:c.1027C>T | NP_001138684.1:p.Pro343Ser | |
| NM_007256.5:c.1459C>T MANE Select | NP_009187.1:p.Pro487Ser |