Linked Data
ClinVar Variation Id:
408126
dbSNP Id:
rs150629342
ExAC:
21:43892951 T / C
gnomAD v2:
21-43892951-T-C
gnomAD v3:
21-42472841-T-C
gnomAD v4:
21-42472841-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42472841T>C , CM000683.2:g.42472841T>C | GRCh38 |
| NC_000021.8:g.43892951T>C , CM000683.1:g.43892951T>C | GRCh37 |
| NC_000021.7:g.42766020T>C | NCBI36 |
| NG_034257.1:g.28514A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291536.8:c.907A>G MANE Select | ENSP00000291536.3:p.Arg303Gly | |
| ENST00000291536.7:c.907A>G | ENSP00000291536.3:p.Arg303Gly | |
| ENST00000398352.3:c.793A>G | ENSP00000381395.3:p.Arg265Gly | |
| ENST00000493019.1:n.2525A>G | ||
| NM_001286506.1:c.793A>G | NP_001273435.1:p.Arg265Gly | |
| NM_080860.3:c.907A>G | NP_543136.1:p.Arg303Gly | |
| XM_005261208.1:c.700A>G | XP_005261265.1:p.Arg234Gly | |
| XM_011529786.1:c.835A>G | XP_011528088.1:p.Arg279Gly | |
| XM_005261208.2:c.700A>G | XP_005261265.1:p.Arg234Gly | |
| NM_080860.4:c.907A>G MANE Select | NP_543136.1:p.Arg303Gly | |
| NM_001286506.2:c.793A>G | NP_001273435.1:p.Arg265Gly |