Linked Data
ClinVar Variation Id:
321913
dbSNP Id:
rs142411659
ExAC:
17:1582939 G / C
gnomAD v2:
17-1582939-G-C
gnomAD v3:
17-1679645-G-C
gnomAD v4:
17-1679645-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1679645G>C , CM000679.2:g.1679645G>C | GRCh38 |
| NC_000017.10:g.1582939G>C , CM000679.1:g.1582939G>C | GRCh37 |
| NC_000017.9:g.1529689G>C | NCBI36 |
| NG_009118.1:g.10238C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.1253C>G | ENSP00000460849.2:p.Thr418Ser | |
| ENST00000703538.1:c.*976C>G | ENSP00000515361.1:n.*976C>G | |
| ENST00000703540.1:c.1253C>G | ENSP00000515362.1:p.Thr418Ser | |
| ENST00000703541.1:c.1253C>G | ENSP00000515363.1:p.Thr418Ser | |
| ENST00000703542.1:n.1053C>G | ||
| ENST00000304992.11:c.1253C>G MANE Select | ENSP00000304350.6:p.Thr418Ser | |
| ENST00000304992.10:c.1253C>G | ENSP00000304350.6:p.Thr418Ser | |
| ENST00000572621.5:c.1253C>G | ENSP00000460348.1:p.Thr418Ser | |
| ENST00000577001.1:c.1088C>G | ENSP00000458151.1:p.Thr363Ser | |
| NM_006445.3:c.1253C>G | NP_006436.3:p.Thr418Ser | |
| XM_024450537.1:c.1253C>G | XP_024306305.1:p.Thr418Ser | |
| NM_006445.4:c.1253C>G MANE Select | NP_006436.3:p.Thr418Ser |