Linked Data
ClinVar Variation Id:
38884
ClinVar RCV Id:
RCV000032133
dbSNP Id:
rs202247819
gnomAD v4:
3-136261979-G-C
PubMed:
PMID:22593918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136261979G>C , CM000665.2:g.136261979G>C | GRCh38 |
| NC_000003.11:g.135980821G>C , CM000665.1:g.135980821G>C | GRCh37 |
| NC_000003.10:g.137463511G>C | NCBI36 |
| NG_008939.1:g.16655G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.457G>C MANE Select | ENSP00000251654.4:p.Ala153Pro | |
| ENST00000251654.8:c.457G>C | ENSP00000251654.4:p.Ala153Pro | |
| ENST00000459873.1:c.208G>C | ENSP00000419293.1:p.Ala70Pro | |
| ENST00000462542.5:c.324G>C | ||
| ENST00000462637.5:c.388G>C | ENSP00000420391.1:p.Ala130Pro | |
| ENST00000465176.5:n.419G>C | ||
| ENST00000465423.5:c.544G>C | ENSP00000419263.1:p.Ala182Pro | |
| ENST00000466072.5:c.457G>C | ENSP00000420158.1:p.Ala153Pro | |
| ENST00000468777.5:c.550G>C | ENSP00000419129.1:p.Ala184Pro | |
| ENST00000469217.5:c.517G>C | ENSP00000419027.1:p.Ala173Pro | |
| ENST00000471595.5:c.457G>C | ENSP00000417549.1:p.Ala153Pro | |
| ENST00000473073.1:n.414G>C | ||
| ENST00000474833.5:n.168+11421G>C | ||
| ENST00000475214.5:n.371G>C | ||
| ENST00000478469.5:c.457G>C | ENSP00000420759.1:p.Ala153Pro | |
| ENST00000482086.5:c.109G>C | ENSP00000417253.1:p.Ala37Pro | |
| ENST00000483687.5:c.400G>C | ENSP00000420639.1:p.Ala134Pro | |
| ENST00000484181.5:c.457G>C | ENSP00000417937.1:p.Ala153Pro | |
| ENST00000490504.5:c.372+5356G>C | ENSP00000418307.1:n.372+5356G>C | |
| ENST00000494742.5:c.208G>C | ENSP00000418020.1:p.Ala70Pro | |
| NM_000532.4:c.457G>C | NP_000523.2:p.Ala153Pro | |
| NM_001178014.1:c.517G>C | NP_001171485.1:p.Ala173Pro | |
| XM_011512873.1:c.457G>C | XP_011511175.1:p.Ala153Pro | |
| XM_011512873.2:c.457G>C | XP_011511175.1:p.Ala153Pro | |
| NM_000532.5:c.457G>C MANE Select | NP_000523.2:p.Ala153Pro | |
| NM_001178014.2:c.517G>C | NP_001171485.1:p.Ala173Pro |