Linked Data
ClinVar Variation Id:
1040764
dbSNP Id:
rs141149381
MyVariant Identifiers:
chr18:g.48586240T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51059870T>A , CM000680.2:g.51059870T>A | GRCh38 |
| NC_000018.9:g.48586240T>A , CM000680.1:g.48586240T>A | GRCh37 |
| NC_000018.8:g.46840238T>A | NCBI36 |
| NG_013013.2:g.96831T>A , LRG_318:g.96831T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.909T>A | ENSP00000465878.2:p.Pro303= | |
| ENST00000589076.6:c.909T>A | ENSP00000466934.2:p.Pro303= | |
| ENST00000589941.2:c.909T>A | ENSP00000465874.2:p.Pro303= | |
| ENST00000590061.2:c.909T>A | ENSP00000464772.2:p.Pro303= | |
| ENST00000593223.2:c.909T>A | ENSP00000466118.2:p.Pro303= | |
| ENST00000611848.2:c.909T>A | ENSP00000478613.2:p.Pro303= | |
| ENST00000684953.1:n.2281T>A | ||
| ENST00000685090.1:n.1360T>A | ||
| ENST00000685232.1:n.1017T>A | ||
| ENST00000688307.1:n.160T>A | ||
| ENST00000688574.1:n.1017T>A | ||
| ENST00000688903.1:n.1123T>A | ||
| ENST00000690892.1:n.1017T>A | ||
| ENST00000342988.8:c.909T>A MANE Select | ENSP00000341551.3:p.Pro303= | |
| ENST00000342988.7:c.909T>A | ENSP00000341551.3:p.Pro303= | |
| ENST00000398417.6:c.909T>A | ENSP00000381452.1:p.Pro303= | |
| ENST00000588745.5:c.667+4877T>A | ENSP00000464901.1:n.667+4877T>A | |
| ENST00000591126.5:n.2910T>A | ||
| ENST00000592186.5:c.909T>A | ENSP00000468611.1:p.Pro303= | |
| ENST00000611848.1:c.109T>A | ||
| NM_005359.5:c.909T>A , LRG_318t1:c.909T>A | NP_005350.1:p.Pro303= | |
| NM_005359.6:c.909T>A MANE Select | NP_005350.1:p.Pro303= |