Linked Data
ClinVar Variation Id:
1504722
ClinVar RCV Id:
RCV002029011
dbSNP Id:
rs779338723
ExAC:
3:128199890 G / T
gnomAD v2:
3-128199890-G-T
gnomAD v3:
3-128481047-G-T
gnomAD v4:
3-128481047-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481047G>T , CM000665.2:g.128481047G>T | GRCh38 |
| NC_000003.11:g.128199890G>T , CM000665.1:g.128199890G>T | GRCh37 |
| NC_000003.10:g.129682580G>T | NCBI36 |
| NG_029334.1:g.17141C>A , LRG_295:g.17141C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1415C>A MANE Plus Clinical | ENSP00000417074.1:p.Pro472Gln | |
| ENST00000696466.1:c.1697C>A | ENSP00000512647.1:p.Pro566Gln | |
| ENST00000696672.1:c.390C>A | ENSP00000512796.1:p.Pro130= | |
| ENST00000341105.7:c.1415C>A MANE Select | ENSP00000345681.2:p.Pro472Gln | |
| ENST00000341105.6:c.1415C>A | ENSP00000345681.2:p.Pro472Gln | |
| ENST00000430265.6:c.1373C>A | ENSP00000400259.2:p.Pro458Gln | |
| ENST00000487848.5:c.1415C>A | ENSP00000417074.1:p.Pro472Gln | |
| ENST00000489987.1:n.532C>A | ||
| NM_001145661.1:c.1415C>A , LRG_295t1:c.1415C>A | NP_001139133.1:p.Pro472Gln | |
| NM_001145662.1:c.1373C>A | NP_001139134.1:p.Pro458Gln | |
| NM_032638.4:c.1415C>A , LRG_295t2:c.1415C>A | NP_116027.2:p.Pro472Gln | |
| NM_001145661.2:c.1415C>A MANE Plus Clinical | NP_001139133.1:p.Pro472Gln | |
| NM_032638.5:c.1415C>A MANE Select | NP_116027.2:p.Pro472Gln |