Linked Data
dbSNP Id:
rs2125128479
gnomAD v4:
3-10146620-C-A
MyVariant Identifiers:
chr3:g.10188304C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146620C>A , CM000665.2:g.10146620C>A | GRCh38 |
| NC_000003.11:g.10188304C>A , CM000665.1:g.10188304C>A | GRCh37 |
| NC_000003.10:g.10163304C>A | NCBI36 |
| NG_008212.3:g.9986C>A , LRG_322:g.9986C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*124C>A | ENSP00000512434.1:n.*124C>A | |
| ENST00000696143.1:c.600-3167C>A | ENSP00000512435.1:n.600-3167C>A | |
| ENST00000696153.1:c.447C>A | ENSP00000512444.1:p.Ala149= | |
| ENST00000256474.3:c.447C>A MANE Select | ENSP00000256474.3:p.Ala149= | |
| ENST00000256474.2:c.447C>A | ENSP00000256474.2:p.Ala149= | |
| ENST00000345392.2:c.341-3167C>A | ENSP00000344757.2:n.341-3167C>A | |
| ENST00000477538.1:n.583C>A | ||
| NM_000551.3:c.447C>A , LRG_322t1:c.447C>A | NP_000542.1:p.Ala149= | |
| NM_198156.2:c.341-3167C>A | NP_937799.1:n.341-3167C>A | |
| NM_001354723.1:c.*18-3167C>A | NP_001341652.1:n.*18-3167C>A | |
| NM_000551.4:c.447C>A MANE Select | NP_000542.1:p.Ala149= | |
| NM_001354723.2:c.*18-3167C>A | NP_001341652.1:n.*18-3167C>A | |
| NM_198156.3:c.341-3167C>A | NP_937799.1:n.341-3167C>A |