Linked Data
ClinVar Variation Id:
159082
ClinVar RCV Id:
RCV000146575
dbSNP Id:
rs587783921
gnomAD v4:
5-37000508-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37000508G>A , CM000667.2:g.37000508G>A | GRCh38 |
| NC_000005.9:g.37000610G>A , CM000667.1:g.37000610G>A | GRCh37 |
| NC_000005.8:g.37036367G>A | NCBI36 |
| NG_006987.1:g.128626G>A | |
| NG_006987.2:g.128626G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.3440G>A MANE Select | ENSP00000282516.8:p.Arg1147Gln | |
| ENST00000652901.1:c.3440G>A | ENSP00000499536.1:p.Arg1147Gln | |
| ENST00000282516.12:c.3440G>A | ENSP00000282516.8:p.Arg1147Gln | |
| ENST00000448238.2:c.3440G>A | ENSP00000406266.2:p.Arg1147Gln | |
| ENST00000621733.1:c.1-64070G>A | ENSP00000480694.1:n.1-64070G>A | |
| NM_015384.4:c.3440G>A | NP_056199.2:p.Arg1147Gln | |
| NM_133433.3:c.3440G>A | NP_597677.2:p.Arg1147Gln | |
| XM_005248280.2:c.3440G>A | XP_005248337.1:p.Arg1147Gln | |
| XM_005248282.3:c.2696G>A | XP_005248339.2:p.Arg899Gln | |
| XM_006714467.2:c.3440G>A | XP_006714530.1:p.Arg1147Gln | |
| XM_006714468.1:c.3305-309G>A | XP_006714531.1:n.3305-309G>A | |
| XM_011514014.1:c.3122-309G>A | XP_011512316.1:n.3122-309G>A | |
| XM_011514015.1:c.3440G>A | XP_011512317.1:p.Arg1147Gln | |
| XM_005248280.3:c.3440G>A | XP_005248337.1:p.Arg1147Gln | |
| XM_005248282.5:c.2780G>A | XP_005248339.3:p.Arg927Gln | |
| XM_006714468.2:c.3305-309G>A | XP_006714531.1:n.3305-309G>A | |
| XM_017009329.1:c.3440G>A | XP_016864818.1:p.Arg1147Gln | |
| XM_017009330.2:c.1823G>A | XP_016864819.1:p.Arg608Gln | |
| XM_017009331.1:c.1814G>A | XP_016864820.1:p.Arg605Gln | |
| NM_133433.4:c.3440G>A MANE Select | NP_597677.2:p.Arg1147Gln | |
| NM_015384.5:c.3440G>A | NP_056199.2:p.Arg1147Gln |