Linked Data
ClinVar Variation Id:
3016739
ClinVar RCV Id:
RCV003878874
dbSNP Id:
rs1665903991
gnomAD v4:
2-31531414-G-A
MyVariant Identifiers:
chr2:g.31756484G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31531414G>A , CM000664.2:g.31531414G>A | GRCh38 |
| NC_000002.11:g.31756484G>A , CM000664.1:g.31756484G>A | GRCh37 |
| NC_000002.10:g.31609988G>A | NCBI36 |
| NG_008365.1:g.54558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.504C>T MANE Select | ENSP00000477587.1:p.Arg168= | |
| ENST00000622030.1:c.504C>T | ENSP00000477587.1:p.Arg168= | |
| NM_000348.3:c.504C>T | NP_000339.2:p.Arg168= | |
| XM_011533069.1:c.282C>T | XP_011531371.1:p.Arg94= | |
| XM_011533070.1:c.249C>T | XP_011531372.1:p.Arg83= | |
| XM_011533071.1:c.249C>T | XP_011531373.1:p.Arg83= | |
| XM_011533072.1:c.249C>T | XP_011531374.1:p.Arg83= | |
| XM_011533069.2:c.282C>T | XP_011531371.1:p.Arg94= | |
| XM_011533072.2:c.249C>T | XP_011531374.1:p.Arg83= | |
| NM_000348.4:c.504C>T MANE Select | NP_000339.2:p.Arg168= |