Linked Data
ClinVar Variation Id:
135435
dbSNP Id:
rs370299361
ExAC:
8:31012183 C / T
gnomAD v2:
8-31012183-C-T
gnomAD v3:
8-31154667-C-T
gnomAD v4:
8-31154667-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31154667C>T , CM000670.2:g.31154667C>T | GRCh38 |
| NC_000008.10:g.31012183C>T , CM000670.1:g.31012183C>T | GRCh37 |
| NC_000008.9:g.31131725C>T | NCBI36 |
| NG_008870.1:g.126406C>T , LRG_524:g.126406C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298139.7:c.3731C>T MANE Select | ENSP00000298139.5:p.Thr1244Met | |
| ENST00000650667.1:c.*3345C>T | ENSP00000498593.1:n.*3345C>T | |
| ENST00000298139.5:c.3731C>T | ENSP00000298139.5:p.Thr1244Met | |
| ENST00000521620.5:n.2364C>T | ||
| NM_000553.4:c.3731C>T , LRG_524t1:c.3731C>T | NP_000544.2:p.Thr1244Met | |
| XM_011544639.1:c.3650C>T | XP_011542941.1:p.Thr1217Met | |
| XM_011544640.1:c.2132C>T | XP_011542942.1:p.Thr711Met | |
| XR_949470.1:n.4004C>T | ||
| XR_949471.1:n.4004C>T | ||
| XR_949472.1:n.4004C>T | ||
| XR_949643.1:n.457-6002G>A | ||
| XR_949644.1:n.381-6002G>A | ||
| XR_949647.1:n.1070-6002G>A | ||
| XR_949648.1:n.972-6002G>A | ||
| NM_000553.5:c.3731C>T | NP_000544.2:p.Thr1244Met | |
| XM_011544639.3:c.3650C>T | XP_011542941.1:p.Thr1217Met | |
| XM_024447265.1:c.3521C>T | XP_024303033.1:p.Thr1174Met | |
| XR_949470.3:n.4032C>T | ||
| XR_949471.3:n.4032C>T | ||
| XR_949472.3:n.4032C>T | ||
| NM_000553.6:c.3731C>T MANE Select | NP_000544.2:p.Thr1244Met |