Linked Data
ClinVar Variation Id:
348860
dbSNP Id:
rs170424
gnomAD v2:
4-52888026-A-C
gnomAD v3:
4-52021860-A-C
gnomAD v4:
4-52021860-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52021860A>C , CM000666.2:g.52021860A>C | GRCh38 |
| NC_000004.11:g.52888026A>C , CM000666.1:g.52888026A>C | GRCh37 |
| NC_000004.10:g.52582783A>C | NCBI36 |
| NG_008891.1:g.21460T>G , LRG_204:g.21460T>G | |
| NG_053164.1:g.3452T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.*2097T>G MANE Select | ENSP00000370839.6:n.*2097T>G | |
| ENST00000381431.9:c.*2097T>G | ENSP00000370839.5:n.*2097T>G | |
| NM_000232.4:c.*2097T>G , LRG_204t1:c.*2097T>G | NP_000223.1:n.*2097T>G | |
| XM_006714049.2:c.*2097T>G | XP_006714112.1:n.*2097T>G | |
| XM_011534403.1:c.*2097T>G | XP_011532705.1:n.*2097T>G | |
| XM_011534404.1:c.*2097T>G | XP_011532706.1:n.*2097T>G | |
| NM_000232.5:c.*2097T>G MANE Select | NP_000223.1:n.*2097T>G |