Linked Data
ClinVar Variation Id:
12336
dbSNP Id:
rs104895219
gnomAD v4:
12-6333823-G-A
COSMIC:
COSM129801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333823G>A , CM000674.2:g.6333823G>A | GRCh38 |
| NC_000012.11:g.6442989G>A , CM000674.1:g.6442989G>A | GRCh37 |
| NC_000012.10:g.6313250G>A | NCBI36 |
| NG_007506.1:g.13273C>T , LRG_193:g.13273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.270C>T | ||
| ENST00000437813.8:c.236C>T | ENSP00000513672.1:p.Thr79Met | |
| ENST00000440083.7:c.236C>T | ENSP00000413224.3:p.Thr79Met | |
| ENST00000535958.2:c.*63C>T | ENSP00000513673.1:n.*63C>T | |
| ENST00000698339.1:c.236C>T | ENSP00000513670.1:p.Thr79Met | |
| ENST00000698340.1:c.236C>T | ENSP00000513671.1:p.Thr79Met | |
| ENST00000162749.7:c.236C>T MANE Select | ENSP00000162749.2:p.Thr79Met | |
| ENST00000162749.6:c.236C>T | ENSP00000162749.2:p.Thr79Met | |
| ENST00000366159.8:c.236C>T | ENSP00000380389.3:p.Thr79Met | |
| ENST00000437813.7:n.197C>T | ||
| ENST00000440083.6:c.236C>T | ENSP00000413224.2:p.Thr79Met | |
| ENST00000534885.5:c.82C>T | ENSP00000441803.1:p.Arg28Trp | |
| ENST00000535958.1:n.482C>T | ||
| ENST00000536194.1:c.209C>T | ENSP00000442919.1:p.Thr70Met | |
| ENST00000539372.5:c.236C>T | ENSP00000442059.1:p.Thr79Met | |
| ENST00000540022.5:c.193+268C>T | ENSP00000438343.1:n.193+268C>T | |
| ENST00000543048.5:c.214+22C>T | ENSP00000439981.1:n.214+22C>T | |
| ENST00000543995.5:c.193+268C>T | ENSP00000442405.1:n.193+268C>T | |
| NM_001065.3:c.236C>T , LRG_193t1:c.236C>T | NP_001056.1:p.Thr79Met | |
| NM_001346091.1:c.-89C>T | NP_001333020.1:n.-89C>T | |
| NM_001346092.1:c.-342C>T | NP_001333021.1:n.-342C>T | |
| NR_144351.1:n.539C>T | ||
| NM_001065.4:c.236C>T MANE Select | NP_001056.1:p.Thr79Met | |
| NM_001346091.2:c.-89C>T | NP_001333020.1:n.-89C>T | |
| NM_001346092.2:c.-342C>T | NP_001333021.1:n.-342C>T | |
| NR_144351.2:n.498C>T |