Linked Data
ClinVar Variation Id:
134466
dbSNP Id:
rs78245253
ExAC:
3:128204693 G / C
gnomAD v2:
3-128204693-G-C
gnomAD v3:
3-128485850-G-C
gnomAD v4:
3-128485850-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128485850G>C , CM000665.2:g.128485850G>C | GRCh38 |
| NC_000003.11:g.128204693G>C , CM000665.1:g.128204693G>C | GRCh37 |
| NC_000003.10:g.129687383G>C | NCBI36 |
| NG_029334.1:g.12338C>G , LRG_295:g.12338C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.748C>G MANE Plus Clinical | ENSP00000417074.1:p.Pro250Ala | |
| ENST00000696466.1:c.1030C>G | ENSP00000512647.1:p.Pro344Ala | |
| ENST00000341105.7:c.748C>G MANE Select | ENSP00000345681.2:p.Pro250Ala | |
| ENST00000341105.6:c.748C>G | ENSP00000345681.2:p.Pro250Ala | |
| ENST00000430265.6:c.748C>G | ENSP00000400259.2:p.Pro250Ala | |
| ENST00000487848.5:c.748C>G | ENSP00000417074.1:p.Pro250Ala | |
| NM_001145661.1:c.748C>G , LRG_295t1:c.748C>G | NP_001139133.1:p.Pro250Ala | |
| NM_001145662.1:c.748C>G | NP_001139134.1:p.Pro250Ala | |
| NM_032638.4:c.748C>G , LRG_295t2:c.748C>G | NP_116027.2:p.Pro250Ala | |
| NM_001145661.2:c.748C>G MANE Plus Clinical | NP_001139133.1:p.Pro250Ala | |
| NM_032638.5:c.748C>G MANE Select | NP_116027.2:p.Pro250Ala |