Linked Data
ClinVar Variation Id:
234460
ClinVar RCV Id:
RCV000216297
dbSNP Id:
rs876661031
gnomAD v2:
12-6442908-C-T
gnomAD v4:
12-6333742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333742C>T , CM000674.2:g.6333742C>T | GRCh38 |
| NC_000012.11:g.6442908C>T , CM000674.1:g.6442908C>T | GRCh37 |
| NC_000012.10:g.6313169C>T | NCBI36 |
| NG_007506.1:g.13354G>A , LRG_193:g.13354G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366159.9:n.351G>A | ||
| ENST00000437813.8:c.317G>A | ENSP00000513672.1:p.Arg106Gln | |
| ENST00000440083.7:c.317G>A | ENSP00000413224.3:p.Arg106Gln | |
| ENST00000535958.2:c.*144G>A | ENSP00000513673.1:n.*144G>A | |
| ENST00000698339.1:c.317G>A | ENSP00000513670.1:p.Arg106Gln | |
| ENST00000698340.1:c.317G>A | ENSP00000513671.1:p.Arg106Gln | |
| ENST00000162749.7:c.317G>A MANE Select | ENSP00000162749.2:p.Arg106Gln | |
| ENST00000162749.6:c.317G>A | ENSP00000162749.2:p.Arg106Gln | |
| ENST00000366159.8:c.317G>A | ENSP00000380389.3:p.Arg106Gln | |
| ENST00000437813.7:n.278G>A | ||
| ENST00000440083.6:c.317G>A | ENSP00000413224.2:p.Arg106Gln | |
| ENST00000534885.5:c.163G>A | ENSP00000441803.1:p.Glu55Lys | |
| ENST00000535958.1:n.563G>A | ||
| ENST00000536194.1:c.290G>A | ENSP00000442919.1:p.Arg97Gln | |
| ENST00000539372.5:c.317G>A | ENSP00000442059.1:p.Arg106Gln | |
| ENST00000540022.5:c.194-226G>A | ENSP00000438343.1:n.194-226G>A | |
| ENST00000543048.5:c.214+103G>A | ENSP00000439981.1:n.214+103G>A | |
| ENST00000543995.5:c.194-291G>A | ENSP00000442405.1:n.194-291G>A | |
| NM_001065.3:c.317G>A , LRG_193t1:c.317G>A | NP_001056.1:p.Arg106Gln | |
| NM_001346091.1:c.-8G>A | NP_001333020.1:n.-8G>A | |
| NM_001346092.1:c.-261G>A | NP_001333021.1:n.-261G>A | |
| NR_144351.1:n.620G>A | ||
| NM_001065.4:c.317G>A MANE Select | NP_001056.1:p.Arg106Gln | |
| NM_001346091.2:c.-8G>A | NP_001333020.1:n.-8G>A | |
| NM_001346092.2:c.-261G>A | NP_001333021.1:n.-261G>A | |
| NR_144351.2:n.579G>A |