Linked Data
ClinVar Variation Id:
357903
dbSNP Id:
rs148144074
gnomAD v2:
6-74303308-G-C
gnomAD v3:
6-73593585-G-C
gnomAD v4:
6-73593585-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73593585G>C , CM000668.2:g.73593585G>C | GRCh38 |
| NC_000006.11:g.74303308G>C , CM000668.1:g.74303308G>C | GRCh37 |
| NC_000006.10:g.74360029G>C | NCBI36 |
| NG_008272.1:g.65430C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.*1492C>G MANE Select | ENSP00000348019.5:n.*1492C>G | |
| ENST00000355773.5:c.*1492C>G | ENSP00000348019.5:n.*1492C>G | |
| NM_012434.4:c.*1492C>G | NP_036566.1:n.*1492C>G | |
| XM_005248710.2:c.*1492C>G | XP_005248767.1:n.*1492C>G | |
| XM_005248711.1:c.*1492C>G | XP_005248768.1:n.*1492C>G | |
| XM_011535750.1:c.*1638C>G | XP_011534052.1:n.*1638C>G | |
| NM_012434.5:c.*1492C>G MANE Select | NP_036566.1:n.*1492C>G | |
| NM_001382629.1:c.*1492C>G | NP_001369558.1:n.*1492C>G | |
| NM_001382630.1:c.*1476C>G | NP_001369559.1:n.*1476C>G | |
| NM_001382631.1:c.*1492C>G | NP_001369560.1:n.*1492C>G | |
| NM_001382632.1:c.*1492C>G | NP_001369561.1:n.*1492C>G | |
| NM_001382633.1:c.*1476C>G | NP_001369562.1:n.*1476C>G | |
| NM_001382634.1:c.*1492C>G | NP_001369563.1:n.*1492C>G | |
| NM_001382635.1:c.*1492C>G | NP_001369564.1:n.*1492C>G | |
| NM_001382636.1:c.*1492C>G | NP_001369565.1:n.*1492C>G |