Linked Data
ClinVar Variation Id:
330832
dbSNP Id:
rs315951
gnomAD v2:
2-113890586-C-G
gnomAD v3:
2-113133009-C-G
gnomAD v4:
2-113133009-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113133009C>G , CM000664.2:g.113133009C>G | GRCh38 |
| NC_000002.11:g.113890586C>G , CM000664.1:g.113890586C>G | GRCh37 |
| NC_000002.10:g.113607057C>G | NCBI36 |
| NG_021240.1:g.20117C>G , LRG_188:g.20117C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409052.6:c.*138C>G | ENSP00000387210.1:n.*138C>G | |
| ENST00000696879.1:c.*138C>G | ENSP00000512947.1:n.*138C>G | |
| ENST00000696880.1:c.*138C>G | ENSP00000512948.1:n.*138C>G | |
| ENST00000696882.1:c.*442C>G | ENSP00000512950.1:n.*442C>G | |
| ENST00000409930.4:c.*138C>G MANE Select | ENSP00000387173.3:n.*138C>G | |
| ENST00000259206.9:c.*138C>G | ENSP00000259206.5:n.*138C>G | |
| ENST00000354115.6:c.*138C>G | ENSP00000329072.3:n.*138C>G | |
| ENST00000361779.7:c.*138C>G | ENSP00000354816.3:n.*138C>G | |
| ENST00000409052.5:c.*138C>G | ENSP00000387210.1:n.*138C>G | |
| ENST00000409930.3:c.*138C>G | ENSP00000387173.3:n.*138C>G | |
| NM_000577.4:c.*138C>G | NP_000568.1:n.*138C>G | |
| NM_173841.2:c.*138C>G , LRG_188t1:c.*138C>G | NP_776213.1:n.*138C>G | |
| NM_173842.2:c.*138C>G | NP_776214.1:n.*138C>G | |
| NM_173843.2:c.*138C>G | NP_776215.1:n.*138C>G | |
| XM_005263661.3:c.*138C>G | XP_005263718.1:n.*138C>G | |
| XM_006712497.2:c.*138C>G | XP_006712560.1:n.*138C>G | |
| XM_011511121.1:c.*138C>G | XP_011509423.1:n.*138C>G | |
| NM_001318914.1:c.*138C>G | NP_001305843.1:n.*138C>G | |
| XM_005263661.4:c.*138C>G | XP_005263718.1:n.*138C>G | |
| NM_000577.5:c.*138C>G | NP_000568.1:n.*138C>G | |
| NM_001318914.2:c.*138C>G | NP_001305843.1:n.*138C>G | |
| NM_173842.3:c.*138C>G MANE Select | NP_776214.1:n.*138C>G | |
| NM_173843.3:c.*138C>G | NP_776215.1:n.*138C>G | |
| NM_001379360.1:c.*138C>G | NP_001366289.1:n.*138C>G | |
| NM_173841.3:c.*138C>G | NP_776213.1:n.*138C>G |