Linked Data
ClinVar Variation Id:
192300
ClinVar RCV Id:
RCV000172876
dbSNP Id:
rs786205900
PubMed:
PMID:25124931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92630278G>T , CM000672.2:g.92630278G>T | GRCh38 |
| NC_000010.10:g.94390035G>T , CM000672.1:g.94390035G>T | GRCh37 |
| NC_000010.9:g.94380015G>T | NCBI36 |
| NG_032580.1:g.42211G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260731.5:c.1408G>T MANE Select | ENSP00000260731.3:p.Glu470Ter | |
| ENST00000676621.1:c.1408G>T | ENSP00000503639.1:p.Glu470Ter | |
| ENST00000676647.1:c.1201G>T | ENSP00000503394.1:p.Glu401Ter | |
| ENST00000676757.1:c.1201G>T | ENSP00000504289.1:p.Glu401Ter | |
| ENST00000677720.1:c.1408G>T | ENSP00000504840.1:p.Glu470Ter | |
| ENST00000260731.4:c.1408G>T | ENSP00000260731.3:p.Glu470Ter | |
| NM_004523.3:c.1408G>T | NP_004514.2:p.Glu470Ter | |
| NM_004523.4:c.1408G>T MANE Select | NP_004514.2:p.Glu470Ter |