Linked Data
ClinVar Variation Id:
252577
ClinVar RCV Id:
RCV000239287
dbSNP Id:
rs142026760
ExAC:
14:59835401 A / G
gnomAD v2:
14-59835401-A-G
gnomAD v3:
14-59368683-A-G
gnomAD v4:
14-59368683-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.59368683A>G , CM000676.2:g.59368683A>G | GRCh38 |
| NC_000014.8:g.59835401A>G , CM000676.1:g.59835401A>G | GRCh37 |
| NC_000014.7:g.58905154A>G | NCBI36 |
| NG_047127.1:g.185073A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360909.8:c.3031A>G MANE Select | ENSP00000354162.3:p.Arg1011Gly | |
| ENST00000360909.7:c.3031A>G | ENSP00000354162.3:p.Arg1011Gly | |
| ENST00000395125.1:c.3061A>G | ENSP00000378557.1:p.Arg1021Gly | |
| ENST00000553307.5:n.679A>G | ||
| ENST00000553966.5:n.794A>G | ||
| ENST00000555651.1:n.1727A>G | ||
| NM_001270520.1:c.3031A>G | NP_001257449.1:p.Arg1011Gly | |
| NM_014992.2:c.3061A>G | NP_055807.1:p.Arg1021Gly | |
| XM_005267430.1:c.3061A>G | XP_005267487.1:p.Arg1021Gly | |
| XM_005267431.1:c.3061A>G | XP_005267488.1:p.Arg1021Gly | |
| XM_005267430.2:c.3061A>G | XP_005267487.1:p.Arg1021Gly | |
| NM_001270520.2:c.3031A>G MANE Select | NP_001257449.1:p.Arg1011Gly |