Linked Data
ClinVar Variation Id:
309714
ClinVar RCV Id:
RCV000282333
dbSNP Id:
rs886049646
gnomAD v2:
12-53207818-G-C
gnomAD v4:
12-52814034-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814034G>C , CM000674.2:g.52814034G>C | GRCh38 |
| NC_000012.11:g.53207818G>C , CM000674.1:g.53207818G>C | GRCh37 |
| NC_000012.10:g.51494085G>C | NCBI36 |
| NG_007380.1:g.5518C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551956.2:c.25C>G MANE Select | ENSP00000448220.1:p.Arg9Gly | |
| ENST00000548097.5:c.25C>G | ENSP00000449755.1:p.Arg9Gly | |
| ENST00000551956.1:c.25C>G | ENSP00000448220.1:p.Arg9Gly | |
| ENST00000552668.1:c.25C>G | ENSP00000447320.1:p.Arg9Gly | |
| NM_002272.3:c.25C>G | NP_002263.3:p.Arg9Gly | |
| NM_002272.4:c.25C>G MANE Select | NP_002263.3:p.Arg9Gly |