Linked Data
ClinVar Variation Id:
10049
ClinVar RCV Id:
RCV000010749
dbSNP Id:
rs137852492
PubMed:
PMID:2347587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134498433G>T , CM000685.2:g.134498433G>T | GRCh38 |
| NC_000023.10:g.133632463G>T , CM000685.1:g.133632463G>T | GRCh37 |
| NC_000023.9:g.133460129G>T | NCBI36 |
| NG_012329.1:g.43289G>T | |
| NG_012329.2:g.43289G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.529G>T MANE Select | ENSP00000298556.7:p.Asp177Tyr | |
| ENST00000298556.7:c.529G>T | ENSP00000298556.7:p.Asp177Tyr | |
| ENST00000462974.5:n.687G>T | ||
| ENST00000475720.1:n.487G>T | ||
| NM_000194.2:c.529G>T | NP_000185.1:p.Asp177Tyr | |
| XM_011531328.1:c.547G>T | XP_011529630.1:p.Asp183Tyr | |
| NM_000194.3:c.529G>T MANE Select | NP_000185.1:p.Asp177Tyr |