Linked Data
ClinVar Variation Id:
12342
ClinVar RCV Id:
RCV000013135
dbSNP Id:
rs104895223
ExAC:
12:6443274 C / G
gnomAD v4:
12-6334108-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6334108C>G , CM000674.2:g.6334108C>G | GRCh38 |
| NC_000012.11:g.6443274C>G , CM000674.1:g.6443274C>G | GRCh37 |
| NC_000012.10:g.6313535C>G | NCBI36 |
| NG_007506.1:g.12988G>C , LRG_193:g.12988G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.210G>C | ||
| ENST00000437813.8:c.176G>C | ENSP00000513672.1:p.Cys59Ser | |
| ENST00000440083.7:c.176G>C | ENSP00000413224.3:p.Cys59Ser | |
| ENST00000535958.2:c.176G>C | ENSP00000513673.1:p.Cys59Ser | |
| ENST00000698339.1:c.176G>C | ENSP00000513670.1:p.Cys59Ser | |
| ENST00000698340.1:c.176G>C | ENSP00000513671.1:p.Cys59Ser | |
| ENST00000162749.7:c.176G>C MANE Select | ENSP00000162749.2:p.Cys59Ser | |
| ENST00000162749.6:c.176G>C | ENSP00000162749.2:p.Cys59Ser | |
| ENST00000366159.8:c.176G>C | ENSP00000380389.3:p.Cys59Ser | |
| ENST00000437813.7:n.137G>C | ||
| ENST00000440083.6:c.176G>C | ENSP00000413224.2:p.Cys59Ser | |
| ENST00000534885.5:c.40-243G>C | ENSP00000441803.1:n.40-243G>C | |
| ENST00000535958.1:n.397G>C | ||
| ENST00000536194.1:c.176G>C | ENSP00000442919.1:p.Cys59Ser | |
| ENST00000538363.1:n.366G>C | ||
| ENST00000539372.5:c.176G>C | ENSP00000442059.1:p.Cys59Ser | |
| ENST00000540022.5:c.176G>C | ENSP00000438343.1:p.Cys59Ser | |
| ENST00000543048.5:c.176G>C | ENSP00000439981.1:p.Cys59Ser | |
| ENST00000543995.5:c.176G>C | ENSP00000442405.1:p.Cys59Ser | |
| NM_001065.3:c.176G>C , LRG_193t1:c.176G>C | NP_001056.1:p.Cys59Ser | |
| NM_001346091.1:c.-131-243G>C | NP_001333020.1:n.-131-243G>C | |
| NM_001346092.1:c.-402G>C | NP_001333021.1:n.-402G>C | |
| NR_144351.1:n.479G>C | ||
| NM_001065.4:c.176G>C MANE Select | NP_001056.1:p.Cys59Ser | |
| NM_001346091.2:c.-131-243G>C | NP_001333020.1:n.-131-243G>C | |
| NM_001346092.2:c.-402G>C | NP_001333021.1:n.-402G>C | |
| NR_144351.2:n.438G>C |