Linked Data
ClinVar Variation Id:
218225
ClinVar RCV Id:
RCV000170558
dbSNP Id:
rs1554064175
PubMed:
PMID:26046662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75596345A>T , CM000667.2:g.75596345A>T | GRCh38 |
| NC_000005.9:g.74892170A>T , CM000667.1:g.74892170A>T | GRCh37 |
| NC_000005.8:g.74927926A>T | NCBI36 |
| NG_051590.1:g.89596A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241436.9:c.1652A>T MANE Select | ENSP00000241436.4:p.Asp551Val | |
| ENST00000241436.8:c.1652A>T | ENSP00000241436.4:p.Asp551Val | |
| ENST00000503479.6:c.*175A>T | ENSP00000421997.2:n.*175A>T | |
| ENST00000504026.5:c.1357-1402A>T | ENSP00000425075.1:n.1357-1402A>T | |
| ENST00000505975.5:c.1766A>T | ENSP00000424859.1:n.1766A>T | |
| ENST00000506928.5:n.1775A>T | ||
| ENST00000508526.5:c.1058A>T | ENSP00000426853.1:p.Asp353Val | |
| ENST00000509126.2:c.1480A>T | ENSP00000423532.1:n.1480A>T | |
| ENST00000510815.6:c.*175A>T | ENSP00000422094.2:n.*175A>T | |
| ENST00000511527.5:c.1471-1402A>T | ENSP00000420997.1:n.1471-1402A>T | |
| ENST00000514141.5:c.*271A>T | ENSP00000423526.1:n.*271A>T | |
| NM_016218.2:c.1652A>T | NP_057302.1:p.Asp551Val | |
| XM_005248534.3:c.1694A>T | XP_005248591.1:p.Asp565Val | |
| XM_005248536.2:c.*10A>T | XP_005248593.1:n.*10A>T | |
| XM_006714652.2:c.407A>T | XP_006714715.1:p.Asp136Val | |
| XM_011543463.1:c.1694A>T | XP_011541765.1:p.Asp565Val | |
| XM_011543464.1:c.1694A>T | XP_011541766.1:p.Asp565Val | |
| XM_011543465.1:c.1694A>T | XP_011541767.1:p.Asp565Val | |
| XM_011543466.1:c.1694A>T | XP_011541768.1:p.Asp565Val | |
| XM_011543467.1:c.1424A>T | XP_011541769.1:p.Asp475Val | |
| XM_011543468.1:c.*10A>T | XP_011541770.1:n.*10A>T | |
| XR_241784.1:n.1660A>T | ||
| XR_948273.1:n.1844A>T | ||
| NM_001345921.1:c.1454A>T | NP_001332850.1:p.Asp485Val | |
| NM_001345922.1:c.1382A>T | NP_001332851.1:p.Asp461Val | |
| NM_016218.3:c.1652A>T | NP_057302.1:p.Asp551Val | |
| NR_144315.1:n.1658A>T | ||
| XM_005248534.5:c.1694A>T | XP_005248591.1:p.Asp565Val | |
| XM_006714652.4:c.407A>T | XP_006714715.1:p.Asp136Val | |
| XM_011543463.3:c.1694A>T | XP_011541765.1:p.Asp565Val | |
| XM_011543464.3:c.1694A>T | XP_011541766.1:p.Asp565Val | |
| XM_011543467.3:c.1424A>T | XP_011541769.1:p.Asp475Val | |
| XM_017009559.2:c.1652A>T | XP_016865048.1:p.Asp551Val | |
| XM_017009560.2:c.1652A>T | XP_016865049.1:p.Asp551Val | |
| XM_017009561.2:c.1496A>T | XP_016865050.1:p.Asp499Val | |
| XM_017009563.2:c.1382A>T | XP_016865052.1:p.Asp461Val | |
| XR_001742105.2:n.2142A>T | ||
| XR_001742107.2:n.2226A>T | ||
| XR_001742108.2:n.1760A>T | ||
| XR_002956163.1:n.3694A>T | ||
| XR_241784.3:n.2184A>T | ||
| XR_948273.3:n.1844A>T | ||
| NM_001345921.2:c.1454A>T | NP_001332850.1:p.Asp485Val | |
| NM_001345922.2:c.1382A>T | NP_001332851.1:p.Asp461Val | |
| NM_001387110.2:c.1643A>T | NP_001374039.1:p.Asp548Val | |
| NM_001387111.2:c.1694A>T | NP_001374040.1:p.Asp565Val | |
| NM_001387113.2:c.1652A>T | NP_001374042.1:p.Asp551Val | |
| NM_016218.5:c.1652A>T | NP_057302.1:p.Asp551Val | |
| NR_144315.2:n.1517A>T | ||
| NR_170559.2:n.1506A>T | ||
| NR_170560.2:n.1738A>T | ||
| NM_001345921.3:c.1454A>T | NP_001332850.1:p.Asp485Val | |
| NM_001345922.3:c.1382A>T | NP_001332851.1:p.Asp461Val | |
| NM_001387110.3:c.1643A>T | NP_001374039.1:p.Asp548Val | |
| NM_001387111.3:c.1694A>T | NP_001374040.1:p.Asp565Val | |
| NM_001387113.3:c.1652A>T | NP_001374042.1:p.Asp551Val | |
| NM_001395893.1:c.1382A>T | NP_001382822.1:p.Asp461Val | |
| NM_001395894.1:c.1694A>T | NP_001382823.1:p.Asp565Val | |
| NM_001395897.1:c.1691A>T | NP_001382826.1:p.Asp564Val | |
| NM_001395899.1:c.1499A>T | NP_001382828.1:p.Asp500Val | |
| NM_001395900.1:c.1454A>T | NP_001382829.1:p.Asp485Val | |
| NM_001395901.1:c.1412A>T | NP_001382830.1:p.Asp471Val | |
| NM_001395902.1:c.1382A>T | NP_001382831.1:p.Asp461Val | |
| NM_016218.6:c.1652A>T MANE Select | NP_057302.1:p.Asp551Val | |
| NR_144315.3:n.1517A>T | ||
| NR_170559.3:n.1506A>T | ||
| NR_170560.3:n.1738A>T |