Linked Data
ClinVar Variation Id:
900378
ClinVar RCV Id:
RCV001145517
dbSNP Id:
rs1237440030
gnomAD v2:
4-52888102-T-G
gnomAD v3:
4-52021936-T-G
gnomAD v4:
4-52021936-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52021936T>G , CM000666.2:g.52021936T>G | GRCh38 |
| NC_000004.11:g.52888102T>G , CM000666.1:g.52888102T>G | GRCh37 |
| NC_000004.10:g.52582859T>G | NCBI36 |
| NG_008891.1:g.21384A>C , LRG_204:g.21384A>C | |
| NG_053164.1:g.3376A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.*2021A>C MANE Select | ENSP00000370839.6:n.*2021A>C | |
| ENST00000381431.9:c.*2021A>C | ENSP00000370839.5:n.*2021A>C | |
| NM_000232.4:c.*2021A>C , LRG_204t1:c.*2021A>C | NP_000223.1:n.*2021A>C | |
| XM_006714049.2:c.*2021A>C | XP_006714112.1:n.*2021A>C | |
| XM_011534403.1:c.*2021A>C | XP_011532705.1:n.*2021A>C | |
| XM_011534404.1:c.*2021A>C | XP_011532706.1:n.*2021A>C | |
| NM_000232.5:c.*2021A>C MANE Select | NP_000223.1:n.*2021A>C |