Linked Data
ClinVar Variation Id:
97651
ClinVar RCV Id:
RCV000083904
dbSNP Id:
rs104895230
gnomAD v4:
12-6334111-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6334111C>A , CM000674.2:g.6334111C>A | GRCh38 |
| NC_000012.11:g.6443277C>A , CM000674.1:g.6443277C>A | GRCh37 |
| NC_000012.10:g.6313538C>A | NCBI36 |
| NG_007506.1:g.12985G>T , LRG_193:g.12985G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.207G>T | ||
| ENST00000437813.8:c.173G>T | ENSP00000513672.1:p.Cys58Phe | |
| ENST00000440083.7:c.173G>T | ENSP00000413224.3:p.Cys58Phe | |
| ENST00000535958.2:c.173G>T | ENSP00000513673.1:p.Cys58Phe | |
| ENST00000698339.1:c.173G>T | ENSP00000513670.1:p.Cys58Phe | |
| ENST00000698340.1:c.173G>T | ENSP00000513671.1:p.Cys58Phe | |
| ENST00000162749.7:c.173G>T MANE Select | ENSP00000162749.2:p.Cys58Phe | |
| ENST00000162749.6:c.173G>T | ENSP00000162749.2:p.Cys58Phe | |
| ENST00000366159.8:c.173G>T | ENSP00000380389.3:p.Cys58Phe | |
| ENST00000437813.7:n.134G>T | ||
| ENST00000440083.6:c.173G>T | ENSP00000413224.2:p.Cys58Phe | |
| ENST00000534885.5:c.40-246G>T | ENSP00000441803.1:n.40-246G>T | |
| ENST00000535958.1:n.394G>T | ||
| ENST00000536194.1:c.173G>T | ENSP00000442919.1:p.Cys58Phe | |
| ENST00000538363.1:n.363G>T | ||
| ENST00000539372.5:c.173G>T | ENSP00000442059.1:p.Cys58Phe | |
| ENST00000540022.5:c.173G>T | ENSP00000438343.1:p.Cys58Phe | |
| ENST00000543048.5:c.173G>T | ENSP00000439981.1:p.Cys58Phe | |
| ENST00000543995.5:c.173G>T | ENSP00000442405.1:p.Cys58Phe | |
| NM_001065.3:c.173G>T , LRG_193t1:c.173G>T | NP_001056.1:p.Cys58Phe | |
| NM_001346091.1:c.-131-246G>T | NP_001333020.1:n.-131-246G>T | |
| NM_001346092.1:c.-405G>T | NP_001333021.1:n.-405G>T | |
| NR_144351.1:n.476G>T | ||
| NM_001065.4:c.173G>T MANE Select | NP_001056.1:p.Cys58Phe | |
| NM_001346091.2:c.-131-246G>T | NP_001333020.1:n.-131-246G>T | |
| NM_001346092.2:c.-405G>T | NP_001333021.1:n.-405G>T | |
| NR_144351.2:n.435G>T |