Linked Data
ClinVar Variation Id:
757072
dbSNP Id:
rs1303132938
MyVariant Identifiers:
chr12:g.12871115G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718181G>T , CM000674.2:g.12718181G>T | GRCh38 |
| NC_000012.11:g.12871115G>T , CM000674.1:g.12871115G>T | GRCh37 |
| NC_000012.10:g.12762382G>T | NCBI36 |
| NG_016341.1:g.5814G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.342G>T | ENSP00000507272.1:p.Pro114= | |
| ENST00000682620.1:n.1631-644G>T | ||
| ENST00000684771.1:n.585-644G>T | ||
| ENST00000228872.9:c.342G>T MANE Select | ENSP00000228872.4:p.Pro114= | |
| ENST00000228872.8:c.342G>T | ENSP00000228872.4:p.Pro114= | |
| ENST00000396340.1:c.342G>T | ENSP00000379629.1:p.Pro114= | |
| ENST00000442489.1:c.193+128G>T | ENSP00000407597.1:n.193+128G>T | |
| ENST00000477087.1:n.155-644G>T | ||
| NM_004064.4:c.342G>T | NP_004055.1:p.Pro114= | |
| NM_004064.5:c.342G>T MANE Select | NP_004055.1:p.Pro114= |