Linked Data
ClinVar Variation Id:
439158
ClinVar RCV Id:
RCV000508552
dbSNP Id:
rs1554917555
gnomAD v4:
11-5225664-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225664T>A , CM000673.2:g.5225664T>A | GRCh38 |
| NC_000011.9:g.5246894T>A , CM000673.1:g.5246894T>A | GRCh37 |
| NC_000011.8:g.5203470T>A | NCBI36 |
| NG_000007.3:g.71952A>T | |
| NG_059281.1:g.6408A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.378A>T | ENSP00000494175.1:p.Pro126= | |
| ENST00000335295.4:c.378A>T MANE Select | ENSP00000333994.3:p.Pro126= | |
| ENST00000475226.1:n.310A>T | ||
| ENST00000633227.1:c.*194A>T | ENSP00000488004.1:n.*194A>T | |
| NM_000518.4:c.378A>T | NP_000509.1:p.Pro126= | |
| NM_000518.5:c.378A>T MANE Select | NP_000509.1:p.Pro126= |