Linked Data
ClinVar Variation Id:
694328
ClinVar RCV Id:
RCV000855681
dbSNP Id:
rs4132601
gnomAD v2:
7-50470604-T-G
gnomAD v3:
7-50402906-T-G
gnomAD v4:
7-50402906-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50402906T>G , CM000669.2:g.50402906T>G | GRCh38 |
| NC_000007.13:g.50470604T>G , CM000669.1:g.50470604T>G | GRCh37 |
| NC_000007.12:g.50438098T>G | NCBI36 |
| NG_034231.1:g.103824T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642219.2:c.*2279T>G | ENSP00000496655.2:n.*2279T>G | |
| ENST00000698575.1:c.*2279T>G | ENSP00000513806.1:n.*2279T>G | |
| ENST00000698577.1:n.3074T>G | ||
| ENST00000331340.8:c.*2279T>G MANE Select | ENSP00000331614.3:n.*2279T>G | |
| ENST00000331340.7:c.*2279T>G | ENSP00000331614.3:n.*2279T>G | |
| ENST00000343574.9:c.*2279T>G | ENSP00000342750.5:n.*2279T>G | |
| ENST00000346667.8:c.*2279T>G | ENSP00000340080.5:n.*2279T>G | |
| ENST00000349824.8:c.*2279T>G | ENSP00000342485.4:n.*2279T>G | |
| ENST00000357364.8:c.*2279T>G | ENSP00000349928.4:n.*2279T>G | |
| ENST00000440768.6:c.*2279T>G | ENSP00000401507.3:n.*2279T>G | |
| ENST00000615491.4:c.*2279T>G | ENSP00000478368.1:n.*2279T>G | |
| NM_001220765.2:c.*2279T>G | NP_001207694.1:n.*2279T>G | |
| NM_001220767.2:c.*2279T>G | NP_001207696.1:n.*2279T>G | |
| NM_001220768.2:c.*2279T>G | NP_001207697.1:n.*2279T>G | |
| NM_001220770.2:c.*2279T>G | NP_001207699.1:n.*2279T>G | |
| NM_001220771.2:c.*2279T>G | NP_001207700.1:n.*2279T>G | |
| NM_001291837.1:c.*2279T>G | NP_001278766.1:n.*2279T>G | |
| NM_001291838.1:c.*2279T>G | NP_001278767.1:n.*2279T>G | |
| NM_001291839.1:c.*2279T>G | NP_001278768.1:n.*2279T>G | |
| NM_001291840.1:c.*2279T>G | NP_001278769.1:n.*2279T>G | |
| NM_001291841.1:c.*2279T>G | NP_001278770.1:n.*2279T>G | |
| NM_001291842.1:c.*2279T>G | NP_001278771.1:n.*2279T>G | |
| NM_001291843.1:c.*2279T>G | NP_001278772.1:n.*2279T>G | |
| NM_001291844.1:c.*2279T>G | NP_001278773.1:n.*2279T>G | |
| NM_006060.5:c.*2279T>G | NP_006051.1:n.*2279T>G | |
| XM_011515058.1:c.*2279T>G | XP_011513360.1:n.*2279T>G | |
| XM_011515059.1:c.*2279T>G | XP_011513361.1:n.*2279T>G | |
| XM_011515060.1:c.*2279T>G | XP_011513362.1:n.*2279T>G | |
| XM_011515061.1:c.*2279T>G | XP_011513363.1:n.*2279T>G | |
| XM_011515062.1:c.*2279T>G | XP_011513364.1:n.*2279T>G | |
| XM_011515063.1:c.*2279T>G | XP_011513365.1:n.*2279T>G | |
| XM_011515064.1:c.*2279T>G | XP_011513366.1:n.*2279T>G | |
| XM_011515065.1:c.*2279T>G | XP_011513367.1:n.*2279T>G | |
| XM_011515066.1:c.*2279T>G | XP_011513368.1:n.*2279T>G | |
| XM_011515067.1:c.*2279T>G | XP_011513369.1:n.*2279T>G | |
| XM_011515068.1:c.*2279T>G | XP_011513370.1:n.*2279T>G | |
| XM_011515069.1:c.*2279T>G | XP_011513371.1:n.*2279T>G | |
| XM_011515070.1:c.*2279T>G | XP_011513372.1:n.*2279T>G | |
| XM_011515071.1:c.*2279T>G | XP_011513373.1:n.*2279T>G | |
| XM_011515072.1:c.*2279T>G | XP_011513374.1:n.*2279T>G | |
| XM_011515073.1:c.*2279T>G | XP_011513375.1:n.*2279T>G | |
| XM_011515074.1:c.*2279T>G | XP_011513376.1:n.*2279T>G | |
| XM_011515075.1:c.*2279T>G | XP_011513377.1:n.*2279T>G | |
| XM_011515076.1:c.*2279T>G | XP_011513378.1:n.*2279T>G | |
| XM_011515077.1:c.*2279T>G | XP_011513379.1:n.*2279T>G | |
| XM_011515078.1:c.*2279T>G | XP_011513380.1:n.*2279T>G | |
| NM_006060.6:c.*2279T>G MANE Select | NP_006051.1:n.*2279T>G | |
| XM_011515058.2:c.*2279T>G | XP_011513360.1:n.*2279T>G | |
| XM_011515059.3:c.*2279T>G | XP_011513361.1:n.*2279T>G | |
| XM_011515060.2:c.*2279T>G | XP_011513362.1:n.*2279T>G | |
| XM_011515061.3:c.*2279T>G | XP_011513363.1:n.*2279T>G | |
| XM_011515062.2:c.*2279T>G | XP_011513364.1:n.*2279T>G | |
| XM_011515063.2:c.*2279T>G | XP_011513365.1:n.*2279T>G | |
| XM_011515064.3:c.*2279T>G | XP_011513366.1:n.*2279T>G | |
| XM_011515065.2:c.*2279T>G | XP_011513367.1:n.*2279T>G | |
| XM_011515066.2:c.*2279T>G | XP_011513368.1:n.*2279T>G | |
| XM_011515067.3:c.*2279T>G | XP_011513369.1:n.*2279T>G | |
| XM_011515068.2:c.*2279T>G | XP_011513370.1:n.*2279T>G | |
| XM_011515069.2:c.*2279T>G | XP_011513371.1:n.*2279T>G | |
| XM_011515070.2:c.*2279T>G | XP_011513372.1:n.*2279T>G | |
| XM_011515071.2:c.*2279T>G | XP_011513373.1:n.*2279T>G | |
| XM_011515072.2:c.*2279T>G | XP_011513374.1:n.*2279T>G | |
| XM_011515073.2:c.*2279T>G | XP_011513375.1:n.*2279T>G | |
| XM_011515074.2:c.*2279T>G | XP_011513376.1:n.*2279T>G | |
| XM_011515075.2:c.*2279T>G | XP_011513377.1:n.*2279T>G | |
| XM_011515076.2:c.*2279T>G | XP_011513378.1:n.*2279T>G | |
| XM_011515077.2:c.*2279T>G | XP_011513379.1:n.*2279T>G | |
| XM_011515078.2:c.*2279T>G | XP_011513380.1:n.*2279T>G | |
| XM_017011667.1:c.*2279T>G | XP_016867156.1:n.*2279T>G | |
| XM_017011668.1:c.*2279T>G | XP_016867157.1:n.*2279T>G | |
| NM_001220765.3:c.*2279T>G | NP_001207694.1:n.*2279T>G | |
| NM_001291837.2:c.*2279T>G | NP_001278766.1:n.*2279T>G | |
| NM_001291838.2:c.*2279T>G | NP_001278767.1:n.*2279T>G | |
| NM_001291839.2:c.*2279T>G | NP_001278768.1:n.*2279T>G |