Linked Data
ClinVar Variation Id:
2430763
ClinVar RCV Id:
RCV003129296
dbSNP Id:
rs767253793
ExAC:
19:45855469 G / A
gnomAD v2:
19-45855469-G-A
gnomAD v3:
19-45352211-G-A
gnomAD v4:
19-45352211-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352211G>A , CM000681.2:g.45352211G>A | GRCh38 |
| NC_000019.9:g.45855469G>A , CM000681.1:g.45855469G>A | GRCh37 |
| NC_000019.8:g.50547309G>A | NCBI36 |
| NG_007067.2:g.23377C>T , LRG_461:g.23377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2188C>T | ENSP00000375808.4:p.Arg730Trp | |
| ENST00000682414.1:c.2188C>T | ENSP00000507019.1:p.Arg730Trp | |
| ENST00000682508.1:n.2217C>T | ||
| ENST00000684218.1:c.*1446C>T | ENSP00000507804.1:n.*1446C>T | |
| ENST00000684264.1:n.1744C>T | ||
| ENST00000684407.1:c.2065C>T | ENSP00000507775.1:p.Arg689Trp | |
| ENST00000684458.1:c.*674C>T | ENSP00000508260.1:n.*674C>T | |
| ENST00000684468.1:n.1900C>T | ||
| ENST00000391945.10:c.2188C>T MANE Select | ENSP00000375809.4:p.Arg730Trp | |
| ENST00000646507.1:n.2285C>T | ||
| ENST00000391941.6:c.2116C>T | ENSP00000375805.2:p.Arg706Trp | |
| ENST00000391942.6:n.1359C>T | ||
| ENST00000391944.7:c.1954C>T | ENSP00000375808.3:p.Arg652Trp | |
| ENST00000391945.8:c.2188C>T | ENSP00000375809.3:p.Arg730Trp | |
| ENST00000588652.5:n.2276C>T | ||
| NM_000400.3:c.2188C>T , LRG_461t1:c.2188C>T | NP_000391.1:p.Arg730Trp | |
| XM_011526611.1:c.2110C>T | XP_011524913.1:p.Arg704Trp | |
| XM_011526611.2:c.2110C>T | XP_011524913.1:p.Arg704Trp | |
| XM_017026467.1:c.2065C>T | XP_016881956.1:p.Arg689Trp | |
| XR_001753633.2:n.2235C>T | ||
| XR_001753634.2:n.2171C>T | ||
| NM_000400.4:c.2188C>T MANE Select | NP_000391.1:p.Arg730Trp |