Linked Data
ClinVar Variation Id:
812625
ClinVar RCV Id:
RCV001003442
dbSNP Id:
rs1131012
gnomAD v3:
17-64350416-T-C
gnomAD v4:
17-64350416-T-C
MyVariant Identifiers:
chr17:g.64350416T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64350416T>C , CM000679.2:g.64350416T>C | GRCh38 |
| NC_000017.9:g.59781521T>C | NCBI36 |
| NG_047009.1:g.68386A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563924.6:c.2008A>G MANE Select | ENSP00000457421.1:p.Arg670Gly | |
| ENST00000563924.5:c.2008A>G | ENSP00000457421.1:p.Arg670Gly | |
| NM_000442.4:c.2008A>G | NP_000433.4:p.Arg670Gly | |
| XM_005276880.1:c.2008A>G | XP_005276937.1:p.Arg670Gly | |
| XM_005276881.1:c.2008A>G | XP_005276938.1:p.Arg670Gly | |
| XM_005276882.1:c.2008A>G | XP_005276939.1:p.Arg670Gly | |
| XM_005276883.1:c.2008A>G | XP_005276940.1:p.Arg670Gly | |
| XM_011524889.1:c.2008A>G | XP_011523191.1:p.Arg670Gly | |
| XM_011524890.1:c.2008A>G | XP_011523192.1:p.Arg670Gly | |
| XM_005276883.2:c.2008A>G | XP_005276940.1:p.Arg670Gly | |
| XM_011524889.2:c.2008A>G | XP_011523191.1:p.Arg670Gly | |
| XM_017024738.1:c.2008A>G | XP_016880227.1:p.Arg670Gly | |
| XM_017024739.1:c.1990+1974A>G | XP_016880228.1:n.1990+1974A>G | |
| XM_017024740.1:c.2008A>G | XP_016880229.1:p.Arg670Gly | |
| XM_017024741.1:c.1990+1974A>G | XP_016880230.1:n.1990+1974A>G | |
| NM_000442.5:c.2008A>G MANE Select | NP_000433.4:p.Arg670Gly |