Linked Data
ClinVar Variation Id:
2971768
ClinVar RCV Id:
RCV003832830
dbSNP Id:
rs1034807701
gnomAD v2:
10-82034799-C-G
gnomAD v3:
10-80275043-C-G
gnomAD v4:
10-80275043-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275043C>G , CM000672.2:g.80275043C>G | GRCh38 |
| NC_000010.10:g.82034799C>G , CM000672.1:g.82034799C>G | GRCh37 |
| NC_000010.9:g.82024779C>G | NCBI36 |
| NG_008083.1:g.19636G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.925G>C MANE Select | ENSP00000361287.3:p.Gly309Arg | |
| ENST00000372213.7:c.925G>C | ENSP00000361287.3:p.Gly309Arg | |
| ENST00000480845.1:n.157G>C | ||
| ENST00000485270.5:n.437G>C | ||
| NM_000429.2:c.925G>C | NP_000420.1:p.Gly309Arg | |
| XM_005269842.3:c.925G>C | XP_005269899.1:p.Gly309Arg | |
| XM_005269843.3:c.802G>C | XP_005269900.1:p.Gly268Arg | |
| NM_000429.3:c.925G>C MANE Select | NP_000420.1:p.Gly309Arg |