Linked Data
ClinVar Variation Id:
224794
ClinVar RCV Id:
RCV000225219
dbSNP Id:
rs869312843
PubMed:
PMID:27003583
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.142771882C>A , CM000668.2:g.142771882C>A | GRCh38 |
| NC_000006.11:g.143093019C>A , CM000668.1:g.143093019C>A | GRCh37 |
| NC_000006.10:g.143134712C>A | NCBI36 |
| NG_047004.1:g.178320G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474532.2:c.2857G>T | ENSP00000515553.1:p.Glu953Ter | |
| ENST00000703916.1:c.1-3346G>T | ENSP00000515550.1:n.1-3346G>T | |
| ENST00000703917.1:c.1-3346G>T | ENSP00000515551.1:n.1-3346G>T | |
| ENST00000703918.1:c.2857G>T | ENSP00000515552.1:p.Glu953Ter | |
| ENST00000012134.7:c.2857G>T | ENSP00000012134.2:p.Glu953Ter | |
| ENST00000367603.8:c.2857G>T MANE Select | ENSP00000356575.2:p.Glu953Ter | |
| ENST00000367604.6:c.2857G>T | ENSP00000356576.1:p.Glu953Ter | |
| ENST00000012134.6:c.2857G>T | ENSP00000012134.2:p.Glu953Ter | |
| ENST00000367603.6:c.2857G>T | ENSP00000356575.2:p.Glu953Ter | |
| ENST00000367604.5:c.2857G>T | ENSP00000356576.1:p.Glu953Ter | |
| NM_006734.3:c.2857G>T | NP_006725.3:p.Glu953Ter | |
| XM_017010805.1:c.2857G>T | XP_016866294.1:p.Glu953Ter | |
| XM_024446416.1:c.2857G>T | XP_024302184.1:p.Glu953Ter | |
| XM_024446417.1:c.2857G>T | XP_024302185.1:p.Glu953Ter | |
| XM_024446418.1:c.2857G>T | XP_024302186.1:p.Glu953Ter | |
| XM_024446419.1:c.2857G>T | XP_024302187.1:p.Glu953Ter | |
| NM_006734.4:c.2857G>T MANE Select | NP_006725.3:p.Glu953Ter |