Linked Data
ClinVar Variation Id:
329806
ClinVar RCV Id:
RCV000263432
dbSNP Id:
rs886054568
gnomAD v2:
19-49472769-G-A
gnomAD v4:
19-48969512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48969512G>A , CM000681.2:g.48969512G>A | GRCh38 |
| NC_000019.9:g.49472769G>A , CM000681.1:g.49472769G>A | GRCh37 |
| NC_000019.8:g.54164581G>A | NCBI36 |
| NG_012923.1:g.28842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1990C>T MANE Select | ENSP00000317904.3:p.Arg664Trp | |
| ENST00000263276.6:c.1798C>T | ENSP00000263276.6:p.Arg600Trp | |
| ENST00000323798.7:c.1990C>T | ENSP00000317904.3:p.Arg664Trp | |
| NM_001161587.1:c.1798C>T | NP_001155059.1:p.Arg600Trp | |
| NM_002103.4:c.1990C>T | NP_002094.2:p.Arg664Trp | |
| NR_027763.1:n.2049C>T | ||
| NM_002103.5:c.1990C>T MANE Select | NP_002094.2:p.Arg664Trp | |
| NM_001161587.2:c.1798C>T | NP_001155059.1:p.Arg600Trp | |
| NR_027763.2:n.2005C>T |