Linked Data
ClinVar Variation Id:
335997
dbSNP Id:
rs145273962
gnomAD v2:
2-39211656-T-C
gnomAD v3:
2-38984515-T-C
gnomAD v4:
2-38984515-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38984515T>C , CM000664.2:g.38984515T>C | GRCh38 |
| NC_000002.11:g.39211656T>C , CM000664.1:g.39211656T>C | GRCh37 |
| NC_000002.10:g.39065160T>C | NCBI36 |
| NG_007530.1:g.140949A>G , LRG_754:g.140949A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.*1309A>G | ENSP00000509424.1:n.*1309A>G | |
| ENST00000686849.1:n.2102A>G | ||
| ENST00000690876.1:c.*2617A>G | ENSP00000508955.1:n.*2617A>G | |
| ENST00000692089.1:c.3399+2958A>G | ENSP00000508626.1:n.3399+2958A>G | |
| ENST00000402219.8:c.*1309A>G MANE Select | ENSP00000384675.2:n.*1309A>G | |
| ENST00000402219.6:c.*1309A>G | ENSP00000384675.2:n.*1309A>G | |
| ENST00000426016.5:c.*1309A>G | ENSP00000387784.1:n.*1309A>G | |
| NM_005633.3:c.*1309A>G , LRG_754t1:c.*1309A>G | NP_005624.2:n.*1309A>G | |
| XM_005264515.3:c.*1309A>G | XP_005264572.1:n.*1309A>G | |
| XM_011533060.1:c.*1309A>G | XP_011531362.1:n.*1309A>G | |
| XM_011533061.1:c.*1309A>G | XP_011531363.1:n.*1309A>G | |
| XM_011533062.1:c.*1309A>G | XP_011531364.1:n.*1309A>G | |
| XM_011533063.1:c.*1309A>G | XP_011531365.1:n.*1309A>G | |
| XM_011533064.1:c.*1309A>G | XP_011531366.1:n.*1309A>G | |
| XM_011533065.1:c.*795A>G | XP_011531367.1:n.*795A>G | |
| XM_011533066.1:c.*1309A>G | XP_011531368.1:n.*1309A>G | |
| XM_005264515.4:c.*1309A>G | XP_005264572.1:n.*1309A>G | |
| XM_011533062.2:c.*1309A>G | XP_011531364.1:n.*1309A>G | |
| XM_011533064.2:c.*1309A>G | XP_011531366.1:n.*1309A>G | |
| NM_001382394.1:c.*1309A>G | NP_001369323.1:n.*1309A>G | |
| NM_001382395.1:c.*1309A>G | NP_001369324.1:n.*1309A>G | |
| NM_005633.4:c.*1309A>G MANE Select | NP_005624.2:n.*1309A>G |