Linked Data
ClinVar Variation Id:
2234421
ClinVar RCV Id:
RCV002747310
dbSNP Id:
rs900236463
gnomAD v3:
12-65239955-C-A
gnomAD v4:
12-65239955-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65239955C>A , CM000674.2:g.65239955C>A | GRCh38 |
| NC_000012.11:g.65633735C>A , CM000674.1:g.65633735C>A | GRCh37 |
| NC_000012.10:g.63920002C>A | NCBI36 |
| NG_016210.1:g.75385C>A | |
| NG_016210.2:g.75385C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1948C>A MANE Select | ENSP00000308369.2:p.Arg650Ser | |
| ENST00000308330.2:c.1948C>A | ENSP00000308369.2:p.Arg650Ser | |
| NM_001167614.1:c.1945C>A | NP_001161086.1:p.Arg649Ser | |
| NM_014319.4:c.1948C>A | NP_055134.2:p.Arg650Ser | |
| NM_014319.5:c.1948C>A MANE Select | NP_055134.2:p.Arg650Ser | |
| NM_001167614.2:c.1945C>A | NP_001161086.1:p.Arg649Ser |