Linked Data
ClinVar Variation Id:
190160
ClinVar RCV Id:
RCV000170378
RCV000256036
RCV000778283
RCV000983999
RCV002505228
RCV002271443
RCV003352790
dbSNP Id:
rs151242354
ExAC:
10:50690735 G / A
gnomAD v2:
10-50690735-G-A
gnomAD v3:
10-49482689-G-A
gnomAD v4:
10-49482689-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49482689G>A , CM000672.2:g.49482689G>A | GRCh38 |
| NC_000010.10:g.50690735G>A , CM000672.1:g.50690735G>A | GRCh37 |
| NC_000010.9:g.50360741G>A | NCBI36 |
| NG_009442.1:g.61413C>T , LRG_465:g.61413C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2167C>T MANE Select | ENSP00000348089.5:p.Gln723Ter | |
| ENST00000681632.1:n.2245C>T | ||
| ENST00000681659.1:c.2008C>T | ENSP00000505631.1:p.Gln670Ter | |
| ENST00000355832.9:c.2167C>T | ENSP00000348089.5:p.Gln723Ter | |
| ENST00000623073.3:c.*559C>T | ENSP00000485650.1:n.*559C>T | |
| ENST00000623115.3:c.277C>T | ENSP00000485321.1:p.Gln93Ter | |
| NM_000124.3:c.2167C>T | NP_000115.1:p.Gln723Ter | |
| NM_001346440.1:c.2167C>T | NP_001333369.1:p.Gln723Ter | |
| NM_000124.4:c.2167C>T MANE Select | NP_000115.1:p.Gln723Ter | |
| NM_001346440.2:c.2167C>T | NP_001333369.1:p.Gln723Ter |