Linked Data
ClinVar Variation Id:
330067
dbSNP Id:
rs551805527
ExAC:
19:54407962 C / T
gnomAD v2:
19-54407962-C-T
gnomAD v3:
19-53904708-C-T
gnomAD v4:
19-53904708-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53904708C>T , CM000681.2:g.53904708C>T | GRCh38 |
| NC_000019.9:g.54407962C>T , CM000681.1:g.54407962C>T | GRCh37 |
| NC_000019.8:g.59099774C>T | NCBI36 |
| NG_009114.1:g.27496C>T , LRG_669:g.27496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1730C>T | ENSP00000507230.1:p.Ser577Leu | |
| ENST00000682676.1:n.1131C>T | ||
| ENST00000682902.1:n.2032C>T | ||
| ENST00000683513.1:c.1656+1555C>T | ENSP00000506809.1:n.1656+1555C>T | |
| ENST00000263431.4:c.1730C>T MANE Select | ENSP00000263431.3:p.Ser577Leu | |
| ENST00000263431.3:c.1730C>T | ENSP00000263431.3:p.Ser577Leu | |
| NM_001316329.1:c.1730C>T | NP_001303258.1:p.Ser577Leu | |
| NM_002739.3:c.1730C>T , LRG_669t1:c.1730C>T | NP_002730.1:p.Ser577Leu | |
| NM_002739.4:c.1730C>T | NP_002730.1:p.Ser577Leu | |
| XM_011527108.1:c.821C>T | XP_011525410.1:p.Ser274Leu | |
| NM_002739.5:c.1730C>T MANE Select | NP_002730.1:p.Ser577Leu | |
| NM_001316329.2:c.1730C>T | NP_001303258.1:p.Ser577Leu |