Linked Data
ClinVar Variation Id:
9079
ClinVar RCV Id:
RCV000009647
dbSNP Id:
rs121434634
gnomAD v4:
1-186894164-T-C
PubMed:
PMID:18451993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186894164T>C , CM000663.2:g.186894164T>C | GRCh38 |
| NC_000001.10:g.186863296T>C , CM000663.1:g.186863296T>C | GRCh37 |
| NC_000001.9:g.185129919T>C | NCBI36 |
| NG_012203.1:g.70265T>C | |
| NG_012203.2:g.70265T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367466.4:c.331T>C MANE Select | ENSP00000356436.3:p.Ser111Pro | |
| ENST00000367466.3:c.331T>C | ENSP00000356436.3:p.Ser111Pro | |
| ENST00000466600.1:n.400T>C | ||
| NM_001311193.1:c.331T>C | NP_001298122.1:p.Ser111Pro | |
| NM_024420.2:c.331T>C | NP_077734.1:p.Ser111Pro | |
| XM_005245267.2:c.220T>C | XP_005245324.1:p.Ser74Pro | |
| XM_011509641.1:c.352T>C | XP_011507943.1:p.Ser118Pro | |
| XM_011509642.1:c.331T>C | XP_011507944.1:p.Ser111Pro | |
| XM_011509643.1:c.331T>C | XP_011507945.1:p.Ser111Pro | |
| XR_921838.1:n.392T>C | ||
| XM_005245267.4:c.346T>C | XP_005245324.2:p.Ser116Pro | |
| XM_011509642.2:c.331T>C | XP_011507944.1:p.Ser111Pro | |
| NM_001311193.2:c.331T>C | NP_001298122.2:p.Ser111Pro | |
| NM_024420.3:c.331T>C MANE Select | NP_077734.2:p.Ser111Pro |