Linked Data
ClinVar Variation Id:
713
dbSNP Id:
rs118204446
ExAC:
16:88898473 G / C
gnomAD v2:
16-88898473-G-C
gnomAD v3:
16-88832065-G-C
gnomAD v4:
16-88832065-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88832065G>C , CM000678.2:g.88832065G>C | GRCh38 |
| NC_000016.9:g.88898473G>C , CM000678.1:g.88898473G>C | GRCh37 |
| NC_000016.8:g.87425974G>C | NCBI36 |
| NG_008667.1:g.29902C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268695.10:c.935C>G MANE Select | ENSP00000268695.5:p.Thr312Ser | |
| ENST00000268695.9:c.935C>G | ENSP00000268695.5:p.Thr312Ser | |
| ENST00000562593.5:n.4344C>G | ||
| ENST00000562931.5:n.523C>G | ||
| ENST00000567525.5:c.616C>G | ENSP00000454484.1:n.616C>G | |
| ENST00000568613.5:c.1054C>G | ENSP00000457921.1:n.1054C>G | |
| NM_000512.4:c.935C>G | NP_000503.1:p.Thr312Ser | |
| XM_005256301.2:c.935C>G | XP_005256358.1:p.Thr312Ser | |
| XM_005256302.1:c.953C>G | XP_005256359.1:p.Thr318Ser | |
| XM_011522982.1:c.953C>G | XP_011521284.1:p.Thr318Ser | |
| XM_011522984.1:c.953C>G | XP_011521286.1:p.Thr318Ser | |
| NM_001323543.1:c.380C>G | NP_001310472.1:p.Thr127Ser | |
| NM_001323544.1:c.953C>G | NP_001310473.1:p.Thr318Ser | |
| XM_005256301.3:c.935C>G | XP_005256358.1:p.Thr312Ser | |
| XM_011522982.2:c.953C>G | XP_011521284.1:p.Thr318Ser | |
| XM_017023111.2:c.953C>G | XP_016878600.1:p.Thr318Ser | |
| XM_017023112.2:c.953C>G | XP_016878601.1:p.Thr318Ser | |
| XM_017023113.1:c.380C>G | XP_016878602.1:p.Thr127Ser | |
| NM_000512.5:c.935C>G MANE Select | NP_000503.1:p.Thr312Ser | |
| NM_001323543.2:c.380C>G | NP_001310472.1:p.Thr127Ser | |
| NM_001323544.2:c.953C>G | NP_001310473.1:p.Thr318Ser |