Linked Data
ClinVar Variation Id:
307780
ClinVar RCV Id:
RCV000390631
dbSNP Id:
rs11056264
gnomAD v2:
12-15126003-G-C
gnomAD v3:
12-14973069-G-C
gnomAD v4:
12-14973069-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14973069G>C , CM000674.2:g.14973069G>C | GRCh38 |
| NC_000012.11:g.15126003G>C , CM000674.1:g.15126003G>C | GRCh37 |
| NC_000012.10:g.15017270G>C | NCBI36 |
| NG_016859.1:g.5048G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.-59G>C MANE Select | ENSP00000266395.2:n.-59G>C | |
| ENST00000266395.2:c.-59G>C | ENSP00000266395.2:n.-59G>C | |
| NM_006205.2:c.-59G>C | NP_006196.1:n.-59G>C | |
| XR_931376.1:n.176-10026C>G | ||
| XR_931376.2:n.390-10026C>G | ||
| NM_006205.3:c.-59G>C MANE Select | NP_006196.1:n.-59G>C |