Linked Data
ClinVar Variation Id:
830332
ClinVar RCV Id:
RCV001030762
dbSNP Id:
rs782032018
gnomAD v4:
2-31580801-C-G
MyVariant Identifiers:
chr2:g.31580801C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580801C>G , CM000664.2:g.31580801C>G | GRCh38 |
| NG_008365.1:g.5171G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.100G>C MANE Select | ENSP00000477587.1:p.Gly34Arg | |
| ENST00000622030.1:c.100G>C | ENSP00000477587.1:p.Gly34Arg | |
| NM_000348.3:c.100G>C | NP_000339.2:p.Gly34Arg | |
| XM_011533068.1:c.100G>C | XP_011531370.1:p.Gly34Arg | |
| XM_011533070.1:c.27-47035G>C | XP_011531372.1:n.27-47035G>C | |
| XM_011533071.1:c.27-47035G>C | XP_011531373.1:n.27-47035G>C | |
| XM_011533072.1:c.27-47035G>C | XP_011531374.1:n.27-47035G>C | |
| XM_011533072.2:c.27-47035G>C | XP_011531374.1:n.27-47035G>C | |
| NM_000348.4:c.100G>C MANE Select | NP_000339.2:p.Gly34Arg |