Linked Data
ClinVar Variation Id:
2602416
ClinVar RCV Id:
RCV003366355
dbSNP Id:
rs1972330162
gnomAD v4:
19-45364058-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45364058G>A , CM000681.2:g.45364058G>A | GRCh38 |
| NC_000019.9:g.45867316G>A , CM000681.1:g.45867316G>A | GRCh37 |
| NC_000019.8:g.50559156G>A | NCBI36 |
| NG_007067.2:g.11530C>T , LRG_461:g.11530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.877C>T | ENSP00000375808.4:p.Arg293Trp | |
| ENST00000682414.1:c.877C>T | ENSP00000507019.1:p.Arg293Trp | |
| ENST00000682508.1:n.906C>T | ||
| ENST00000684218.1:c.*135C>T | ENSP00000507804.1:n.*135C>T | |
| ENST00000684407.1:c.754C>T | ENSP00000507775.1:p.Arg252Trp | |
| ENST00000684458.1:c.877C>T | ENSP00000508260.1:p.Arg293Trp | |
| ENST00000391945.10:c.877C>T MANE Select | ENSP00000375809.4:p.Arg293Trp | |
| ENST00000586131.6:c.805C>T | ENSP00000464887.1:p.Arg269Trp | |
| ENST00000646507.1:n.974C>T | ||
| ENST00000391941.6:c.805C>T | ENSP00000375805.2:p.Arg269Trp | |
| ENST00000391944.7:c.643C>T | ENSP00000375808.3:p.Arg215Trp | |
| ENST00000391945.8:c.877C>T | ENSP00000375809.3:p.Arg293Trp | |
| ENST00000485403.6:c.805C>T | ENSP00000431229.2:p.Arg269Trp | |
| ENST00000586131.5:c.805C>T | ENSP00000464887.1:p.Arg269Trp | |
| ENST00000591309.5:c.*135C>T | ENSP00000465207.1:n.*135C>T | |
| NM_000400.3:c.877C>T , LRG_461t1:c.877C>T | NP_000391.1:p.Arg293Trp | |
| NM_001130867.1:c.805C>T | NP_001124339.1:p.Arg269Trp | |
| XM_011526611.1:c.799C>T | XP_011524913.1:p.Arg267Trp | |
| XR_935763.1:n.924C>T | ||
| XM_011526611.2:c.799C>T | XP_011524913.1:p.Arg267Trp | |
| XM_017026467.1:c.754C>T | XP_016881956.1:p.Arg252Trp | |
| XR_001753633.2:n.924C>T | ||
| XR_001753634.2:n.924C>T | ||
| NM_000400.4:c.877C>T MANE Select | NP_000391.1:p.Arg293Trp | |
| NM_001130867.2:c.805C>T | NP_001124339.1:p.Arg269Trp |