Linked Data
ClinVar Variation Id:
342478
ClinVar RCV Id:
RCV000376346
dbSNP Id:
rs191582744
gnomAD v2:
3-10194243-C-A
gnomAD v3:
3-10152559-C-A
gnomAD v4:
3-10152559-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10152559C>A , CM000665.2:g.10152559C>A | GRCh38 |
| NC_000003.11:g.10194243C>A , CM000665.1:g.10194243C>A | GRCh37 |
| NC_000003.10:g.10169243C>A | NCBI36 |
| NG_008212.3:g.15925C>A , LRG_322:g.15925C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696153.1:c.*2594C>A | ENSP00000512444.1:n.*2594C>A | |
| ENST00000256474.3:c.*2594C>A MANE Select | ENSP00000256474.3:n.*2594C>A | |
| NM_000551.3:c.*2594C>A , LRG_322t1:c.*2594C>A | NP_000542.1:n.*2594C>A | |
| NM_198156.2:c.*2594C>A | NP_937799.1:n.*2594C>A | |
| NM_001354723.1:c.*2790C>A | NP_001341652.1:n.*2790C>A | |
| NM_000551.4:c.*2594C>A MANE Select | NP_000542.1:n.*2594C>A | |
| NM_001354723.2:c.*2790C>A | NP_001341652.1:n.*2790C>A | |
| NM_198156.3:c.*2594C>A | NP_937799.1:n.*2594C>A |