Linked Data
ClinVar Variation Id:
1914873
ClinVar RCV Id:
RCV002597885
dbSNP Id:
rs754518856
ExAC:
12:15130955 C / G
gnomAD v2:
12-15130955-C-G
gnomAD v3:
12-14978021-C-G
gnomAD v4:
12-14978021-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978021C>G , CM000674.2:g.14978021C>G | GRCh38 |
| NC_000012.11:g.15130955C>G , CM000674.1:g.15130955C>G | GRCh37 |
| NC_000012.10:g.15022222C>G | NCBI36 |
| NG_016859.1:g.10000C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.9C>G MANE Select | ENSP00000266395.2:p.Asp3Glu | |
| ENST00000266395.2:c.9C>G | ENSP00000266395.2:p.Asp3Glu | |
| NM_006205.2:c.9C>G | NP_006196.1:p.Asp3Glu | |
| XR_931376.1:n.175+11466G>C | ||
| XM_017019431.2:c.9C>G | XP_016874920.1:p.Asp3Glu | |
| XR_931376.2:n.389+11466G>C | ||
| NM_006205.3:c.9C>G MANE Select | NP_006196.1:p.Asp3Glu |