Linked Data
dbSNP Id:
rs1578785468
gnomAD v4:
4-154569722-G-A
MyVariant Identifiers:
chr4:g.155490874G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569722G>A , CM000666.2:g.154569722G>A | GRCh38 |
| NC_000004.11:g.155490874G>A , CM000666.1:g.155490874G>A | GRCh37 |
| NC_000004.10:g.155710324G>A | NCBI36 |
| NG_008833.1:g.11743G>A , LRG_558:g.11743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1167G>A MANE Select | ENSP00000306099.4:p.Gln389= | |
| ENST00000302068.8:c.1167G>A | ENSP00000306099.4:p.Gln389= | |
| ENST00000502545.5:n.939+415G>A | ||
| ENST00000509493.1:c.510G>A | ENSP00000426757.1:p.Gln170= | |
| NM_001184741.1:c.990G>A | NP_001171670.1:p.Gln330= | |
| NM_005141.4:c.1167G>A , LRG_558t1:c.1167G>A | NP_005132.2:p.Gln389= | |
| NM_001382759.1:c.1035G>A | NP_001369688.1:p.Gln345= | |
| NM_001382760.1:c.1167G>A | NP_001369689.1:p.Gln389= | |
| NM_001382761.1:c.1167G>A | NP_001369690.1:p.Gln389= | |
| NM_001382762.1:c.867G>A | NP_001369691.1:p.Gln289= | |
| NM_001382763.1:c.1158G>A | NP_001369692.1:p.Gln386= | |
| NM_001382764.1:c.1081-51G>A | NP_001369693.1:n.1081-51G>A | |
| NM_001382765.1:c.1167G>A | NP_001369694.1:p.Gln389= | |
| NM_005141.5:c.1167G>A MANE Select | NP_005132.2:p.Gln389= |