Linked Data
ClinVar Variation Id:
2949126
ClinVar RCV Id:
RCV003801852
dbSNP Id:
rs1428908262
gnomAD v2:
5-67589524-T-G
gnomAD v3:
5-68293696-T-G
gnomAD v4:
5-68293696-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68293696T>G , CM000667.2:g.68293696T>G | GRCh38 |
| NC_000005.9:g.67589524T>G , CM000667.1:g.67589524T>G | GRCh37 |
| NC_000005.8:g.67625280T>G | NCBI36 |
| NG_012849.2:g.82941T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320694.13:c.400-13T>G | ENSP00000323512.8:n.400-13T>G | |
| ENST00000336483.10:c.490-13T>G | ENSP00000338554.5:n.490-13T>G | |
| ENST00000517643.2:c.1300-13T>G | ENSP00000513333.1:n.1300-13T>G | |
| ENST00000517698.6:c.*270-13T>G | ENSP00000430424.1:n.*270-13T>G | |
| ENST00000521657.6:c.1300-13T>G | ENSP00000429277.1:n.1300-13T>G | |
| ENST00000522084.6:c.490-13T>G | ENSP00000429766.2:n.490-13T>G | |
| ENST00000697457.1:c.1225-13T>G | ENSP00000513315.1:n.1225-13T>G | |
| ENST00000697458.1:c.1300-13T>G | ENSP00000513316.1:n.1300-13T>G | |
| ENST00000697460.1:c.775-13T>G | ENSP00000513318.1:n.775-13T>G | |
| ENST00000697461.1:c.1300-13T>G | ENSP00000513319.1:n.1300-13T>G | |
| ENST00000697462.1:c.490-13T>G | ENSP00000513320.1:n.490-13T>G | |
| ENST00000697463.1:n.941-13T>G | ||
| ENST00000697464.1:c.*266-13T>G | ENSP00000513322.1:n.*266-13T>G | |
| ENST00000697465.1:c.337-13T>G | ENSP00000513323.1:n.337-13T>G | |
| ENST00000697466.1:c.307-13T>G | ENSP00000513324.1:n.307-13T>G | |
| ENST00000697467.1:c.211-13T>G | ENSP00000513325.1:n.211-13T>G | |
| ENST00000697468.1:c.283-13T>G | ENSP00000513326.1:n.283-13T>G | |
| ENST00000697556.1:c.1207-13T>G | ENSP00000513334.1:n.1207-13T>G | |
| ENST00000697557.1:c.283-13T>G | ENSP00000513335.1:n.283-13T>G | |
| ENST00000521381.6:c.1300-13T>G MANE Select | ENSP00000428056.1:n.1300-13T>G | |
| ENST00000320694.12:c.400-13T>G | ENSP00000323512.8:n.400-13T>G | |
| ENST00000336483.9:c.490-13T>G | ENSP00000338554.5:n.490-13T>G | |
| ENST00000517698.5:c.*270-13T>G | ENSP00000430424.1:n.*270-13T>G | |
| ENST00000518813.5:n.1843-13T>G | ||
| ENST00000519025.5:c.319-13T>G | ENSP00000429156.1:n.319-13T>G | |
| ENST00000520550.1:n.699-13T>G | ||
| ENST00000521381.5:c.1300-13T>G | ENSP00000428056.1:n.1300-13T>G | |
| ENST00000521409.5:c.211-13T>G | ENSP00000431058.1:n.211-13T>G | |
| ENST00000521657.5:c.1300-13T>G | ENSP00000429277.1:n.1300-13T>G | |
| ENST00000523872.1:c.211-13T>G | ENSP00000430098.1:n.211-13T>G | |
| NM_001242466.1:c.211-13T>G | NP_001229395.1:n.211-13T>G | |
| NM_181504.3:c.490-13T>G | NP_852556.2:n.490-13T>G | |
| NM_181523.2:c.1300-13T>G | NP_852664.1:n.1300-13T>G | |
| NM_181524.1:c.400-13T>G | NP_852665.1:n.400-13T>G | |
| XM_005248542.2:c.1300-13T>G | XP_005248599.1:n.1300-13T>G | |
| XM_011543493.1:c.973-13T>G | XP_011541795.1:n.973-13T>G | |
| XM_005248542.3:c.1300-13T>G | XP_005248599.1:n.1300-13T>G | |
| XM_011543493.3:c.973-13T>G | XP_011541795.1:n.973-13T>G | |
| XM_017009585.2:c.1300-13T>G | XP_016865074.1:n.1300-13T>G | |
| XM_017009586.1:c.1027-13T>G | XP_016865075.1:n.1027-13T>G | |
| NM_181523.3:c.1300-13T>G MANE Select | NP_852664.1:n.1300-13T>G | |
| NM_001242466.2:c.211-13T>G | NP_001229395.1:n.211-13T>G | |
| NM_181504.4:c.490-13T>G | NP_852556.2:n.490-13T>G | |
| NM_181524.2:c.400-13T>G | NP_852665.1:n.400-13T>G |