Linked Data
ClinVar Variation Id:
1012814
ClinVar RCV Id:
RCV001310984
dbSNP Id:
rs1948071442
gnomAD v4:
12-6333129-G-A
COSMIC:
COSM3872251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333129G>A , CM000674.2:g.6333129G>A | GRCh38 |
| NC_000012.11:g.6442295G>A , CM000674.1:g.6442295G>A | GRCh37 |
| NC_000012.10:g.6312556G>A | NCBI36 |
| NG_007506.1:g.13967C>T , LRG_193:g.13967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.525C>T | ||
| ENST00000437813.8:c.491C>T | ENSP00000513672.1:p.Thr164Ile | |
| ENST00000440083.7:c.710C>T | ENSP00000413224.3:p.Thr237Ile | |
| ENST00000535958.2:c.*318C>T | ENSP00000513673.1:n.*318C>T | |
| ENST00000698339.1:c.491C>T | ENSP00000513670.1:p.Thr164Ile | |
| ENST00000698340.1:c.491C>T | ENSP00000513671.1:p.Thr164Ile | |
| ENST00000162749.7:c.491C>T MANE Select | ENSP00000162749.2:p.Thr164Ile | |
| ENST00000162749.6:c.491C>T | ENSP00000162749.2:p.Thr164Ile | |
| ENST00000366159.8:c.491C>T | ENSP00000380389.3:p.Thr164Ile | |
| ENST00000437813.7:n.452C>T | ||
| ENST00000440083.6:c.710C>T | ENSP00000413224.2:p.Thr237Ile | |
| ENST00000534885.5:c.337C>T | ENSP00000441803.1:p.Pro113Ser | |
| ENST00000537842.5:n.95C>T | ||
| ENST00000539372.5:c.491C>T | ENSP00000442059.1:p.Thr164Ile | |
| ENST00000540022.5:c.362C>T | ENSP00000438343.1:p.Thr121Ile | |
| ENST00000543048.5:c.*102C>T | ENSP00000439981.1:n.*102C>T | |
| ENST00000543995.5:c.*78C>T | ENSP00000442405.1:n.*78C>T | |
| NM_001065.3:c.491C>T , LRG_193t1:c.491C>T | NP_001056.1:p.Thr164Ile | |
| NM_001346091.1:c.167C>T | NP_001333020.1:p.Thr56Ile | |
| NM_001346092.1:c.-87C>T | NP_001333021.1:n.-87C>T | |
| NR_144351.1:n.794C>T | ||
| NM_001065.4:c.491C>T MANE Select | NP_001056.1:p.Thr164Ile | |
| NM_001346091.2:c.167C>T | NP_001333020.1:p.Thr56Ile | |
| NM_001346092.2:c.-87C>T | NP_001333021.1:n.-87C>T | |
| NR_144351.2:n.753C>T |