Linked Data
ClinVar Variation Id:
381572
dbSNP Id:
rs369465430
gnomAD v2:
3-10188277-C-A
gnomAD v3:
3-10146593-C-A
gnomAD v4:
3-10146593-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146593C>A , CM000665.2:g.10146593C>A | GRCh38 |
| NC_000003.11:g.10188277C>A , CM000665.1:g.10188277C>A | GRCh37 |
| NC_000003.10:g.10163277C>A | NCBI36 |
| NG_008212.3:g.9959C>A , LRG_322:g.9959C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*97C>A | ENSP00000512434.1:n.*97C>A | |
| ENST00000696143.1:c.600-3194C>A | ENSP00000512435.1:n.600-3194C>A | |
| ENST00000696153.1:c.420C>A | ENSP00000512444.1:p.Leu140= | |
| ENST00000256474.3:c.420C>A MANE Select | ENSP00000256474.3:p.Leu140= | |
| ENST00000256474.2:c.420C>A | ENSP00000256474.2:p.Leu140= | |
| ENST00000345392.2:c.341-3194C>A | ENSP00000344757.2:n.341-3194C>A | |
| ENST00000477538.1:n.556C>A | ||
| NM_000551.3:c.420C>A , LRG_322t1:c.420C>A | NP_000542.1:p.Leu140= | |
| NM_198156.2:c.341-3194C>A | NP_937799.1:n.341-3194C>A | |
| XM_011534078.1:c.*97C>A | XP_011532380.1:n.*97C>A | |
| NM_001354723.1:c.*18-3194C>A | NP_001341652.1:n.*18-3194C>A | |
| NM_000551.4:c.420C>A MANE Select | NP_000542.1:p.Leu140= | |
| NM_001354723.2:c.*18-3194C>A | NP_001341652.1:n.*18-3194C>A | |
| NM_198156.3:c.341-3194C>A | NP_937799.1:n.341-3194C>A |