Linked Data
ClinVar Variation Id:
343467
dbSNP Id:
rs371155999
ExAC:
3:136002730 C / T
gnomAD v2:
3-136002730-C-T
gnomAD v3:
3-136283888-C-T
gnomAD v4:
3-136283888-C-T
COSMIC:
COSM5978728
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136283888C>T , CM000665.2:g.136283888C>T | GRCh38 |
| NC_000003.11:g.136002730C>T , CM000665.1:g.136002730C>T | GRCh37 |
| NC_000003.10:g.137485420C>T | NCBI36 |
| NG_008939.1:g.38564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.595C>T MANE Select | ENSP00000251654.4:p.Pro199Ser | |
| ENST00000251654.8:c.595C>T | ENSP00000251654.4:p.Pro199Ser | |
| ENST00000459873.1:c.346C>T | ENSP00000419293.1:p.Pro116Ser | |
| ENST00000462542.5:c.462C>T | ||
| ENST00000462637.5:c.526C>T | ENSP00000420391.1:p.Pro176Ser | |
| ENST00000465176.5:n.557C>T | ||
| ENST00000466072.5:c.595C>T | ENSP00000420158.1:p.Pro199Ser | |
| ENST00000468777.5:c.688C>T | ENSP00000419129.1:p.Pro230Ser | |
| ENST00000469217.5:c.655C>T | ENSP00000419027.1:p.Pro219Ser | |
| ENST00000471595.5:c.595C>T | ENSP00000417549.1:p.Pro199Ser | |
| ENST00000473073.1:n.552C>T | ||
| ENST00000474833.5:n.220C>T | ||
| ENST00000475214.5:n.509C>T | ||
| ENST00000478469.5:c.595C>T | ENSP00000420759.1:p.Pro199Ser | |
| ENST00000482086.5:c.247C>T | ENSP00000417253.1:p.Pro83Ser | |
| ENST00000483687.5:c.538C>T | ENSP00000420639.1:p.Pro180Ser | |
| ENST00000484181.5:c.595C>T | ENSP00000417937.1:p.Pro199Ser | |
| ENST00000490504.5:c.424C>T | ENSP00000418307.1:p.Pro142Ser | |
| NM_000532.4:c.595C>T | NP_000523.2:p.Pro199Ser | |
| NM_001178014.1:c.655C>T | NP_001171485.1:p.Pro219Ser | |
| XM_011512873.1:c.595C>T | XP_011511175.1:p.Pro199Ser | |
| XM_011512873.2:c.595C>T | XP_011511175.1:p.Pro199Ser | |
| NM_000532.5:c.595C>T MANE Select | NP_000523.2:p.Pro199Ser | |
| NM_001178014.2:c.655C>T | NP_001171485.1:p.Pro219Ser |