Linked Data
ClinVar Variation Id:
1354109
ClinVar RCV Id:
RCV001887728
dbSNP Id:
rs138569838
gnomAD v2:
19-45855492-C-A
gnomAD v4:
19-45352234-C-A
COSMIC:
COSM1612409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352234C>A , CM000681.2:g.45352234C>A | GRCh38 |
| NC_000019.9:g.45855492C>A , CM000681.1:g.45855492C>A | GRCh37 |
| NC_000019.8:g.50547332C>A | NCBI36 |
| NG_007067.2:g.23354G>T , LRG_461:g.23354G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2165G>T | ENSP00000375808.4:p.Arg722Leu | |
| ENST00000682414.1:c.2165G>T | ENSP00000507019.1:p.Arg722Leu | |
| ENST00000682508.1:n.2194G>T | ||
| ENST00000684218.1:c.*1423G>T | ENSP00000507804.1:n.*1423G>T | |
| ENST00000684264.1:n.1721G>T | ||
| ENST00000684407.1:c.2042G>T | ENSP00000507775.1:p.Arg681Leu | |
| ENST00000684458.1:c.*651G>T | ENSP00000508260.1:n.*651G>T | |
| ENST00000684468.1:n.1877G>T | ||
| ENST00000391945.10:c.2165G>T MANE Select | ENSP00000375809.4:p.Arg722Leu | |
| ENST00000646507.1:n.2262G>T | ||
| ENST00000391941.6:c.2093G>T | ENSP00000375805.2:p.Arg698Leu | |
| ENST00000391942.6:n.1336G>T | ||
| ENST00000391944.7:c.1931G>T | ENSP00000375808.3:p.Arg644Leu | |
| ENST00000391945.8:c.2165G>T | ENSP00000375809.3:p.Arg722Leu | |
| ENST00000588652.5:n.2253G>T | ||
| NM_000400.3:c.2165G>T , LRG_461t1:c.2165G>T | NP_000391.1:p.Arg722Leu | |
| XM_011526611.1:c.2087G>T | XP_011524913.1:p.Arg696Leu | |
| XM_011526611.2:c.2087G>T | XP_011524913.1:p.Arg696Leu | |
| XM_017026467.1:c.2042G>T | XP_016881956.1:p.Arg681Leu | |
| XR_001753633.2:n.2212G>T | ||
| XR_001753634.2:n.2148G>T | ||
| NM_000400.4:c.2165G>T MANE Select | NP_000391.1:p.Arg722Leu |