Linked Data
ClinVar Variation Id:
307783
ClinVar RCV Id:
RCV000395604
dbSNP Id:
rs886049108
gnomAD v2:
12-15134457-G-C
gnomAD v3:
12-14981523-G-C
gnomAD v4:
12-14981523-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14981523G>C , CM000674.2:g.14981523G>C | GRCh38 |
| NC_000012.11:g.15134457G>C , CM000674.1:g.15134457G>C | GRCh37 |
| NC_000012.10:g.15025724G>C | NCBI36 |
| NG_016859.1:g.13502G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.*47G>C MANE Select | ENSP00000266395.2:n.*47G>C | |
| ENST00000266395.2:c.*47G>C | ENSP00000266395.2:n.*47G>C | |
| NM_006205.2:c.*47G>C | NP_006196.1:n.*47G>C | |
| XR_931376.1:n.175+7964C>G | ||
| XM_017019431.2:c.*47G>C | XP_016874920.1:n.*47G>C | |
| XR_931376.2:n.389+7964C>G | ||
| NM_006205.3:c.*47G>C MANE Select | NP_006196.1:n.*47G>C |