Linked Data
ClinVar Variation Id:
3028879
ClinVar RCV Id:
RCV003890744
dbSNP Id:
rs1676771192
gnomAD v4:
2-111997418-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111997418G>A , CM000664.2:g.111997418G>A | GRCh38 |
| NC_000002.11:g.112754995G>A , CM000664.1:g.112754995G>A | GRCh37 |
| NC_000002.10:g.112471466G>A | NCBI36 |
| NG_011607.1:g.103805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.1546G>A MANE Select | ENSP00000295408.4:p.Gly516Arg | |
| ENST00000295408.8:c.1546G>A | ENSP00000295408.4:p.Gly516Arg | |
| ENST00000409780.5:c.1018G>A | ENSP00000387277.1:p.Gly340Arg | |
| ENST00000421804.6:c.1546G>A | ENSP00000389152.2:p.Gly516Arg | |
| ENST00000439966.5:c.*1019G>A | ENSP00000402129.1:n.*1019G>A | |
| ENST00000473065.1:n.49G>A | ||
| ENST00000616902.4:c.511G>A | ENSP00000482824.1:p.Gly171Arg | |
| NM_006343.2:c.1546G>A | NP_006334.2:p.Gly516Arg | |
| XM_005263565.3:c.1546G>A | XP_005263622.1:p.Gly516Arg | |
| XM_005263568.3:c.1546G>A | XP_005263625.1:p.Gly516Arg | |
| XM_011510490.1:c.1357G>A | XP_011508792.1:p.Gly453Arg | |
| XM_011510491.1:c.331G>A | XP_011508793.1:p.Gly111Arg | |
| XM_005263565.4:c.1546G>A | XP_005263622.1:p.Gly516Arg | |
| XM_005263568.4:c.1546G>A | XP_005263625.1:p.Gly516Arg | |
| XM_011510490.3:c.1357G>A | XP_011508792.1:p.Gly453Arg | |
| XM_017003164.1:c.1357G>A | XP_016858653.1:p.Gly453Arg | |
| XM_017003165.2:c.331G>A | XP_016858654.1:p.Gly111Arg | |
| NM_006343.3:c.1546G>A MANE Select | NP_006334.2:p.Gly516Arg |