Linked Data
ClinVar Variation Id:
2201248
ClinVar RCV Id:
RCV002644342
dbSNP Id:
rs188617536
ExAC:
5:67589301 A / G
gnomAD v2:
5-67589301-A-G
gnomAD v3:
5-68293473-A-G
gnomAD v4:
5-68293473-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68293473A>G , CM000667.2:g.68293473A>G | GRCh38 |
| NC_000005.9:g.67589301A>G , CM000667.1:g.67589301A>G | GRCh37 |
| NC_000005.8:g.67625057A>G | NCBI36 |
| NG_012849.2:g.82718A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320694.13:c.389A>G | ENSP00000323512.8:p.Lys130Arg | |
| ENST00000336483.10:c.479A>G | ENSP00000338554.5:p.Lys160Arg | |
| ENST00000517643.2:c.1289A>G | ENSP00000513333.1:p.Lys430Arg | |
| ENST00000517698.6:c.*259A>G | ENSP00000430424.1:n.*259A>G | |
| ENST00000521657.6:c.1289A>G | ENSP00000429277.1:p.Lys430Arg | |
| ENST00000522084.6:c.479A>G | ENSP00000429766.2:p.Lys160Arg | |
| ENST00000697457.1:c.1214A>G | ENSP00000513315.1:p.Lys405Arg | |
| ENST00000697458.1:c.1289A>G | ENSP00000513316.1:p.Lys430Arg | |
| ENST00000697460.1:c.764A>G | ENSP00000513318.1:p.Lys255Arg | |
| ENST00000697461.1:c.1289A>G | ENSP00000513319.1:p.Lys430Arg | |
| ENST00000697462.1:c.479A>G | ENSP00000513320.1:p.Lys160Arg | |
| ENST00000697463.1:n.930A>G | ||
| ENST00000697464.1:c.*255A>G | ENSP00000513322.1:n.*255A>G | |
| ENST00000697465.1:c.326A>G | ENSP00000513323.1:p.Lys109Arg | |
| ENST00000697466.1:c.296A>G | ENSP00000513324.1:p.Lys99Arg | |
| ENST00000697467.1:c.200A>G | ENSP00000513325.1:p.Lys67Arg | |
| ENST00000697468.1:c.272A>G | ENSP00000513326.1:p.Lys91Arg | |
| ENST00000697556.1:c.1196A>G | ENSP00000513334.1:p.Lys399Arg | |
| ENST00000697557.1:c.272A>G | ENSP00000513335.1:p.Lys91Arg | |
| ENST00000521381.6:c.1289A>G MANE Select | ENSP00000428056.1:p.Lys430Arg | |
| ENST00000320694.12:c.389A>G | ENSP00000323512.8:p.Lys130Arg | |
| ENST00000336483.9:c.479A>G | ENSP00000338554.5:p.Lys160Arg | |
| ENST00000517698.5:c.*259A>G | ENSP00000430424.1:n.*259A>G | |
| ENST00000518813.5:n.1832A>G | ||
| ENST00000519025.5:c.308A>G | ENSP00000429156.1:p.Lys103Arg | |
| ENST00000520550.1:n.688A>G | ||
| ENST00000521381.5:c.1289A>G | ENSP00000428056.1:p.Lys430Arg | |
| ENST00000521409.5:c.200A>G | ENSP00000431058.1:p.Lys67Arg | |
| ENST00000521657.5:c.1289A>G | ENSP00000429277.1:p.Lys430Arg | |
| ENST00000523872.1:c.200A>G | ENSP00000430098.1:p.Lys67Arg | |
| NM_001242466.1:c.200A>G | NP_001229395.1:p.Lys67Arg | |
| NM_181504.3:c.479A>G | NP_852556.2:p.Lys160Arg | |
| NM_181523.2:c.1289A>G | NP_852664.1:p.Lys430Arg | |
| NM_181524.1:c.389A>G | NP_852665.1:p.Lys130Arg | |
| XM_005248542.2:c.1289A>G | XP_005248599.1:p.Lys430Arg | |
| XM_011543493.1:c.962A>G | XP_011541795.1:p.Lys321Arg | |
| XM_005248542.3:c.1289A>G | XP_005248599.1:p.Lys430Arg | |
| XM_011543493.3:c.962A>G | XP_011541795.1:p.Lys321Arg | |
| XM_017009585.2:c.1289A>G | XP_016865074.1:p.Lys430Arg | |
| XM_017009586.1:c.1016A>G | XP_016865075.1:p.Lys339Arg | |
| NM_181523.3:c.1289A>G MANE Select | NP_852664.1:p.Lys430Arg | |
| NM_001242466.2:c.200A>G | NP_001229395.1:p.Lys67Arg | |
| NM_181504.4:c.479A>G | NP_852556.2:p.Lys160Arg | |
| NM_181524.2:c.389A>G | NP_852665.1:p.Lys130Arg |