Linked Data
ClinVar Variation Id:
11710
ClinVar RCV Id:
RCV000012476
dbSNP Id:
rs28936070
PubMed:
PMID:15166289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68839709G>T , CM000685.2:g.68839709G>T | GRCh38 |
| NC_000023.10:g.68059552G>T , CM000685.1:g.68059552G>T | GRCh37 |
| NC_000023.9:g.67976277G>T | NCBI36 |
| NG_008887.1:g.15713G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000204961.5:c.452G>T MANE Select | ENSP00000204961.4:p.Gly151Val | |
| ENST00000204961.4:c.452G>T | ENSP00000204961.4:p.Gly151Val | |
| NM_004429.4:c.452G>T | NP_004420.1:p.Gly151Val | |
| NM_004429.5:c.452G>T MANE Select | NP_004420.1:p.Gly151Val |