Linked Data
ClinVar Variation Id:
226525
dbSNP Id:
rs1045644
ExAC:
14:31355096 C / G
gnomAD v2:
14-31355096-C-G
gnomAD v3:
14-30885890-C-G
gnomAD v4:
14-30885890-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30885890C>G , CM000676.2:g.30885890C>G | GRCh38 |
| NC_000014.8:g.31355096C>G , CM000676.1:g.31355096C>G | GRCh37 |
| NC_000014.7:g.30424847C>G | NCBI36 |
| NG_008211.2:g.16356C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216361.9:c.1250C>G | ENSP00000216361.5:p.Thr417Ser | |
| ENST00000396618.9:c.1055C>G MANE Select | ENSP00000379862.3:p.Thr352Ser | |
| ENST00000555117.2:c.1112C>G | ENSP00000493569.1:p.Thr371Ser | |
| ENST00000643575.1:c.1055C>G | ENSP00000494838.1:p.Thr352Ser | |
| ENST00000643697.1:n.1357C>G | ||
| ENST00000644874.2:c.1055C>G | ENSP00000496360.1:p.Thr352Ser | |
| ENST00000216361.8:c.1055C>G | ENSP00000216361.4:p.Thr352Ser | |
| ENST00000396618.7:c.1055C>G | ENSP00000379862.3:p.Thr352Ser | |
| ENST00000460581.6:c.719C>G | ENSP00000451713.1:p.Thr240Ser | |
| ENST00000468826.2:c.706C>G | ||
| ENST00000475087.5:c.1055C>G | ENSP00000451528.1:p.Thr352Ser | |
| NM_001135058.1:c.1055C>G | NP_001128530.1:p.Thr352Ser | |
| NM_004086.2:c.1055C>G | NP_004077.1:p.Thr352Ser | |
| NR_038356.1:n.975G>C | ||
| XM_011536539.1:c.1055C>G | XP_011534841.1:p.Thr352Ser | |
| NM_001347720.1:c.1250C>G | NP_001334649.1:p.Thr417Ser | |
| XM_017021071.1:c.1250C>G | XP_016876560.1:p.Thr417Ser | |
| XM_024449506.1:c.1112C>G | XP_024305274.1:p.Thr371Ser | |
| NM_004086.3:c.1055C>G MANE Select | NP_004077.1:p.Thr352Ser | |
| NM_001135058.2:c.1055C>G | NP_001128530.1:p.Thr352Ser | |
| NM_001347720.2:c.1250C>G | NP_001334649.1:p.Thr417Ser |