Linked Data
ClinVar Variation Id:
342435
ClinVar RCV Id:
RCV000323041
dbSNP Id:
rs141916278
gnomAD v2:
3-10193068-A-G
gnomAD v3:
3-10151384-A-G
gnomAD v4:
3-10151384-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10151384A>G , CM000665.2:g.10151384A>G | GRCh38 |
| NC_000003.11:g.10193068A>G , CM000665.1:g.10193068A>G | GRCh37 |
| NC_000003.10:g.10168068A>G | NCBI36 |
| NG_008212.3:g.14750A>G , LRG_322:g.14750A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*1738A>G | ENSP00000512434.1:n.*1738A>G | |
| ENST00000696143.1:c.2197A>G | ENSP00000512435.1:n.2197A>G | |
| ENST00000696153.1:c.*1419A>G | ENSP00000512444.1:n.*1419A>G | |
| ENST00000256474.3:c.*1419A>G MANE Select | ENSP00000256474.3:n.*1419A>G | |
| ENST00000256474.2:c.*1419A>G | ENSP00000256474.2:n.*1419A>G | |
| ENST00000345392.2:c.*1419A>G | ENSP00000344757.2:n.*1419A>G | |
| NM_000551.3:c.*1419A>G , LRG_322t1:c.*1419A>G | NP_000542.1:n.*1419A>G | |
| NM_198156.2:c.*1419A>G | NP_937799.1:n.*1419A>G | |
| NM_001354723.1:c.*1615A>G | NP_001341652.1:n.*1615A>G | |
| NM_000551.4:c.*1419A>G MANE Select | NP_000542.1:n.*1419A>G | |
| NM_001354723.2:c.*1615A>G | NP_001341652.1:n.*1615A>G | |
| NM_198156.3:c.*1419A>G | NP_937799.1:n.*1419A>G |