Linked Data
ClinVar Variation Id:
1428469
ClinVar RCV Id:
RCV001936328
dbSNP Id:
rs149818919
ExAC:
19:45855870 C / A
gnomAD v2:
19-45855870-C-A
gnomAD v3:
19-45352612-C-A
gnomAD v4:
19-45352612-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352612C>A , CM000681.2:g.45352612C>A | GRCh38 |
| NC_000019.9:g.45855870C>A , CM000681.1:g.45855870C>A | GRCh37 |
| NC_000019.8:g.50547710C>A | NCBI36 |
| NG_007067.2:g.22976G>T , LRG_461:g.22976G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1940G>T | ENSP00000375808.4:p.Arg647Leu | |
| ENST00000682414.1:c.1940G>T | ENSP00000507019.1:p.Arg647Leu | |
| ENST00000682508.1:n.1969G>T | ||
| ENST00000684218.1:c.*1198G>T | ENSP00000507804.1:n.*1198G>T | |
| ENST00000684264.1:n.1496G>T | ||
| ENST00000684407.1:c.1817G>T | ENSP00000507775.1:p.Arg606Leu | |
| ENST00000684458.1:c.*426G>T | ENSP00000508260.1:n.*426G>T | |
| ENST00000684468.1:n.1652G>T | ||
| ENST00000391945.10:c.1940G>T MANE Select | ENSP00000375809.4:p.Arg647Leu | |
| ENST00000646507.1:n.2037G>T | ||
| ENST00000391941.6:c.1868G>T | ENSP00000375805.2:p.Arg623Leu | |
| ENST00000391942.6:n.1111G>T | ||
| ENST00000391944.7:c.1706G>T | ENSP00000375808.3:p.Arg569Leu | |
| ENST00000391945.8:c.1940G>T | ENSP00000375809.3:p.Arg647Leu | |
| ENST00000588652.5:n.2028G>T | ||
| NM_000400.3:c.1940G>T , LRG_461t1:c.1940G>T | NP_000391.1:p.Arg647Leu | |
| XM_011526611.1:c.1862G>T | XP_011524913.1:p.Arg621Leu | |
| XM_011526611.2:c.1862G>T | XP_011524913.1:p.Arg621Leu | |
| XM_017026467.1:c.1817G>T | XP_016881956.1:p.Arg606Leu | |
| XR_001753633.2:n.1987G>T | ||
| XR_001753634.2:n.1923G>T | ||
| NM_000400.4:c.1940G>T MANE Select | NP_000391.1:p.Arg647Leu |