Linked Data
ClinVar Variation Id:
1474107
ClinVar RCV Id:
RCV001971027
dbSNP Id:
rs933256547
gnomAD v2:
17-7918772-C-G
gnomAD v3:
17-8015454-C-G
gnomAD v4:
17-8015454-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015454C>G , CM000679.2:g.8015454C>G | GRCh38 |
| NC_000017.10:g.7918772C>G , CM000679.1:g.7918772C>G | GRCh37 |
| NC_000017.9:g.7859497C>G | NCBI36 |
| NG_009092.1:g.17785C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2896C>G MANE Select | ENSP00000254854.4:p.Arg966Gly | |
| ENST00000254854.4:c.2896C>G | ENSP00000254854.4:p.Arg966Gly | |
| NM_000180.3:c.2896C>G | NP_000171.1:p.Arg966Gly | |
| XM_011523816.1:c.2896C>G | XP_011522118.1:p.Arg966Gly | |
| NM_000180.4:c.2896C>G MANE Select | NP_000171.1:p.Arg966Gly |