Linked Data
ClinVar Variation Id:
97668
ClinVar RCV Id:
RCV000083921
dbSNP Id:
rs104895232
gnomAD v4:
12-6333818-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333818A>G , CM000674.2:g.6333818A>G | GRCh38 |
| NC_000012.11:g.6442984A>G , CM000674.1:g.6442984A>G | GRCh37 |
| NC_000012.10:g.6313245A>G | NCBI36 |
| NG_007506.1:g.13278T>C , LRG_193:g.13278T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.275T>C | ||
| ENST00000437813.8:c.241T>C | ENSP00000513672.1:p.Cys81Arg | |
| ENST00000440083.7:c.241T>C | ENSP00000413224.3:p.Cys81Arg | |
| ENST00000535958.2:c.*68T>C | ENSP00000513673.1:n.*68T>C | |
| ENST00000698339.1:c.241T>C | ENSP00000513670.1:p.Cys81Arg | |
| ENST00000698340.1:c.241T>C | ENSP00000513671.1:p.Cys81Arg | |
| ENST00000162749.7:c.241T>C MANE Select | ENSP00000162749.2:p.Cys81Arg | |
| ENST00000162749.6:c.241T>C | ENSP00000162749.2:p.Cys81Arg | |
| ENST00000366159.8:c.241T>C | ENSP00000380389.3:p.Cys81Arg | |
| ENST00000437813.7:n.202T>C | ||
| ENST00000440083.6:c.241T>C | ENSP00000413224.2:p.Cys81Arg | |
| ENST00000534885.5:c.87T>C | ENSP00000441803.1:p.Thr29= | |
| ENST00000535958.1:n.487T>C | ||
| ENST00000536194.1:c.214T>C | ENSP00000442919.1:p.Cys72Arg | |
| ENST00000539372.5:c.241T>C | ENSP00000442059.1:p.Cys81Arg | |
| ENST00000540022.5:c.193+273T>C | ENSP00000438343.1:n.193+273T>C | |
| ENST00000543048.5:c.214+27T>C | ENSP00000439981.1:n.214+27T>C | |
| ENST00000543995.5:c.193+273T>C | ENSP00000442405.1:n.193+273T>C | |
| NM_001065.3:c.241T>C , LRG_193t1:c.241T>C | NP_001056.1:p.Cys81Arg | |
| NM_001346091.1:c.-84T>C | NP_001333020.1:n.-84T>C | |
| NM_001346092.1:c.-337T>C | NP_001333021.1:n.-337T>C | |
| NR_144351.1:n.544T>C | ||
| NM_001065.4:c.241T>C MANE Select | NP_001056.1:p.Cys81Arg | |
| NM_001346091.2:c.-84T>C | NP_001333020.1:n.-84T>C | |
| NM_001346092.2:c.-337T>C | NP_001333021.1:n.-337T>C | |
| NR_144351.2:n.503T>C |