Linked Data
ClinVar Variation Id:
431129
ClinVar RCV Id:
RCV000496113
dbSNP Id:
rs1135401801
PubMed:
PMID:28708303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134473378G>T , CM000685.2:g.134473378G>T | GRCh38 |
| NC_000023.10:g.133607408G>T , CM000685.1:g.133607408G>T | GRCh37 |
| NC_000023.9:g.133435074G>T | NCBI36 |
| NG_012329.1:g.18234G>T | |
| NG_012329.2:g.18234G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.47G>T MANE Select | ENSP00000298556.7:p.Gly16Val | |
| ENST00000298556.7:c.47G>T | ENSP00000298556.7:p.Gly16Val | |
| ENST00000462974.5:n.205G>T | ||
| ENST00000475720.1:n.5G>T | ||
| NM_000194.2:c.47G>T | NP_000185.1:p.Gly16Val | |
| XM_011531328.1:c.65G>T | XP_011529630.1:p.Gly22Val | |
| NM_000194.3:c.47G>T MANE Select | NP_000185.1:p.Gly16Val |