Linked Data
ClinVar Variation Id:
11048
dbSNP Id:
rs132630321
gnomAD v3:
X-70035446-C-T
gnomAD v4:
X-70035446-C-T
PubMed:
PMID:18657636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70035446C>T , CM000685.2:g.70035446C>T | GRCh38 |
| NC_000023.10:g.69255296C>T , CM000685.1:g.69255296C>T | GRCh37 |
| NC_000023.9:g.69172021C>T | NCBI36 |
| NG_009809.1:g.424386C>T | |
| NG_009809.2:g.424380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.1013C>T MANE Select | ENSP00000363680.4:p.Thr338Met | |
| ENST00000374552.8:c.1013C>T | ENSP00000363680.4:p.Thr338Met | |
| ENST00000374553.6:c.1007C>T | ENSP00000363681.2:p.Thr336Met | |
| ENST00000524573.5:c.998C>T | ENSP00000432585.1:p.Thr333Met | |
| ENST00000616899.1:c.617C>T | ENSP00000481963.1:p.Thr206Met | |
| NM_001005609.1:c.1007C>T | NP_001005609.1:p.Thr336Met | |
| NM_001005612.2:c.998C>T | NP_001005612.2:p.Thr333Met | |
| NM_001399.4:c.1013C>T | NP_001390.1:p.Thr338Met | |
| XM_006724630.2:c.1004C>T | XP_006724693.1:p.Thr335Met | |
| XM_017029336.1:c.971C>T | XP_016884825.1:p.Thr324Met | |
| NM_001399.5:c.1013C>T MANE Select | NP_001390.1:p.Thr338Met | |
| NM_001005609.2:c.1007C>T | NP_001005609.1:p.Thr336Met | |
| NM_001005612.3:c.998C>T | NP_001005612.2:p.Thr333Met |