Linked Data
ClinVar Variation Id:
3002356
ClinVar RCV Id:
RCV003865483
gnomAD v4:
16-88841949-T-G
MyVariant Identifiers:
chr16:g.88908357T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88841949T>G , CM000678.2:g.88841949T>G | GRCh38 |
| NC_000016.9:g.88908357T>G , CM000678.1:g.88908357T>G | GRCh37 |
| NC_000016.8:g.87435858T>G | NCBI36 |
| NG_008667.1:g.20018A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268695.10:c.267A>C MANE Select | ENSP00000268695.5:p.Gly89= | |
| ENST00000268695.9:c.267A>C | ENSP00000268695.5:p.Gly89= | |
| ENST00000562593.5:n.3676A>C | ||
| ENST00000562831.1:c.51A>C | ENSP00000455174.1:p.Gly17= | |
| ENST00000565364.1:n.402A>C | ||
| ENST00000567525.5:c.92A>C | ENSP00000454484.1:p.Asp31Ala | |
| ENST00000567779.1:n.97A>C | ||
| ENST00000568613.5:c.386A>C | ENSP00000457921.1:n.386A>C | |
| NM_000512.4:c.267A>C | NP_000503.1:p.Gly89= | |
| XM_005256301.2:c.267A>C | XP_005256358.1:p.Gly89= | |
| XM_005256302.1:c.285A>C | XP_005256359.1:p.Gly95= | |
| XM_011522982.1:c.285A>C | XP_011521284.1:p.Gly95= | |
| XM_011522984.1:c.285A>C | XP_011521286.1:p.Gly95= | |
| NM_001323543.1:c.-289A>C | NP_001310472.1:n.-289A>C | |
| NM_001323544.1:c.285A>C | NP_001310473.1:p.Gly95= | |
| XM_005256301.3:c.267A>C | XP_005256358.1:p.Gly89= | |
| XM_011522982.2:c.285A>C | XP_011521284.1:p.Gly95= | |
| XM_017023111.2:c.285A>C | XP_016878600.1:p.Gly95= | |
| XM_017023112.2:c.285A>C | XP_016878601.1:p.Gly95= | |
| XM_017023113.1:c.-289A>C | XP_016878602.1:n.-289A>C | |
| NM_000512.5:c.267A>C MANE Select | NP_000503.1:p.Gly89= | |
| NM_001323543.2:c.-289A>C | NP_001310472.1:n.-289A>C | |
| NM_001323544.2:c.285A>C | NP_001310473.1:p.Gly95= |