Linked Data
dbSNP Id:
rs1564885912
gnomAD v4:
11-5253289-G-A
MyVariant Identifiers:
chr11:g.5274519G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253289G>A , CM000673.2:g.5253289G>A | GRCh38 |
| NC_000011.9:g.5274519G>A , CM000673.1:g.5274519G>A | GRCh37 |
| NC_000011.8:g.5231095G>A | NCBI36 |
| NG_000007.3:g.44327C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336906.6:c.432C>T MANE Select | ENSP00000338082.4:p.Ser144= | |
| ENST00000380252.6:c.267C>T | ENSP00000369602.2:p.Ser89= | |
| ENST00000642908.1:c.315+1003C>T | ENSP00000495346.1:n.315+1003C>T | |
| ENST00000647543.1:c.378+54C>T | ENSP00000496470.1:n.378+54C>T | |
| ENST00000336906.4:c.432C>T | ENSP00000338082.4:p.Ser144= | |
| ENST00000380252.5:c.402C>T | ENSP00000369602.1:p.Ser134= | |
| ENST00000380259.6:c.432C>T | ENSP00000369609.2:p.Ser144= | |
| ENST00000620888.4:c.315+1003C>T | ENSP00000479637.1:n.315+1003C>T | |
| NM_000184.2:c.432C>T | NP_000175.1:p.Ser144= | |
| NM_000184.3:c.432C>T MANE Select | NP_000175.1:p.Ser144= |