Linked Data
ClinVar Variation Id:
578843
ClinVar RCV Id:
RCV000701971
dbSNP Id:
rs763331671
ExAC:
5:148406199 G / A
gnomAD v2:
5-148406199-G-A
gnomAD v3:
5-149026636-G-A
gnomAD v4:
5-149026636-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149026636G>A , CM000667.2:g.149026636G>A | GRCh38 |
| NC_000005.9:g.148406199G>A , CM000667.1:g.148406199G>A | GRCh37 |
| NC_000005.8:g.148386392G>A | NCBI36 |
| NG_007947.2:g.41539C>T , LRG_269:g.41539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.2885C>T | ||
| ENST00000515425.6:c.2989C>T MANE Select | ENSP00000423660.1:p.Arg997Trp | |
| ENST00000675793.1:c.*2273C>T | ENSP00000502039.1:n.*2273C>T | |
| ENST00000676056.1:c.*2499C>T | ENSP00000501827.1:n.*2499C>T | |
| ENST00000323829.9:c.*2377C>T | ENSP00000313025.5:n.*2377C>T | |
| ENST00000504517.5:c.2519C>T | ENSP00000421779.1:n.2519C>T | |
| ENST00000504690.5:c.2989C>T | ENSP00000425627.1:p.Arg997Trp | |
| ENST00000510779.1:c.2039C>T | ||
| ENST00000511307.5:c.*2876C>T | ENSP00000421420.1:n.*2876C>T | |
| ENST00000512049.5:c.2968C>T | ENSP00000421860.1:p.Arg990Trp | |
| ENST00000513604.5:c.*2484C>T | ENSP00000423111.1:n.*2484C>T | |
| ENST00000515425.5:c.2989C>T | ENSP00000423660.1:p.Arg997Trp | |
| NM_024577.3:c.2989C>T , LRG_269t1:c.2989C>T | NP_078853.2:p.Arg997Trp | |
| NM_024577.4:c.2989C>T MANE Select | NP_078853.2:p.Arg997Trp |