Linked Data
dbSNP Id:
rs769419116
ExAC:
3:128199926 T / G
gnomAD v2:
3-128199926-T-G
gnomAD v3:
3-128481083-T-G
gnomAD v4:
3-128481083-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481083T>G , CM000665.2:g.128481083T>G | GRCh38 |
| NC_000003.11:g.128199926T>G , CM000665.1:g.128199926T>G | GRCh37 |
| NC_000003.10:g.129682616T>G | NCBI36 |
| NG_029334.1:g.17105A>C , LRG_295:g.17105A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1379A>C MANE Plus Clinical | ENSP00000417074.1:p.His460Pro | |
| ENST00000696466.1:c.1661A>C | ENSP00000512647.1:p.His554Pro | |
| ENST00000696672.1:c.354A>C | ENSP00000512796.1:p.Pro118= | |
| ENST00000341105.7:c.1379A>C MANE Select | ENSP00000345681.2:p.His460Pro | |
| ENST00000341105.6:c.1379A>C | ENSP00000345681.2:p.His460Pro | |
| ENST00000430265.6:c.1337A>C | ENSP00000400259.2:p.His446Pro | |
| ENST00000487848.5:c.1379A>C | ENSP00000417074.1:p.His460Pro | |
| ENST00000489987.1:n.496A>C | ||
| NM_001145661.1:c.1379A>C , LRG_295t1:c.1379A>C | NP_001139133.1:p.His460Pro | |
| NM_001145662.1:c.1337A>C | NP_001139134.1:p.His446Pro | |
| NM_032638.4:c.1379A>C , LRG_295t2:c.1379A>C | NP_116027.2:p.His460Pro | |
| NM_001145661.2:c.1379A>C MANE Plus Clinical | NP_001139133.1:p.His460Pro | |
| NM_032638.5:c.1379A>C MANE Select | NP_116027.2:p.His460Pro |