Linked Data
ClinVar Variation Id:
281331
dbSNP Id:
rs1047883
ExAC:
2:211456637 A / T
gnomAD v2:
2-211456637-A-T
gnomAD v3:
2-210591913-A-T
gnomAD v4:
2-210591913-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210591913A>T , CM000664.2:g.210591913A>T | GRCh38 |
| NC_000002.11:g.211456637A>T , CM000664.1:g.211456637A>T | GRCh37 |
| NC_000002.10:g.211164882A>T | NCBI36 |
| NG_008285.1:g.119229A>T , LRG_336:g.119229A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233072.10:c.1030A>T MANE Select | ENSP00000233072.5:p.Thr344Ser | |
| ENST00000430249.7:c.1048A>T | ENSP00000402608.2:p.Thr350Ser | |
| ENST00000673510.1:c.1030A>T | ENSP00000500537.1:p.Thr344Ser | |
| ENST00000673630.1:c.1030A>T | ENSP00000501073.1:p.Thr344Ser | |
| ENST00000673711.1:c.1030A>T | ENSP00000501022.1:p.Thr344Ser | |
| ENST00000233072.9:c.1030A>T | ENSP00000233072.5:p.Thr344Ser | |
| ENST00000430249.6:c.1048A>T | ENSP00000402608.2:p.Thr350Ser | |
| ENST00000619804.1:c.1030A>T | ENSP00000480517.1:p.Thr344Ser | |
| NM_001122633.2:c.1048A>T | NP_001116105.1:p.Thr350Ser | |
| NM_001875.4:c.1030A>T , LRG_336t1:c.1030A>T | NP_001866.2:p.Thr344Ser | |
| XM_011510640.1:c.1063A>T | XP_011508942.1:p.Thr355Ser | |
| XM_011510641.1:c.1030A>T | XP_011508943.1:p.Thr344Ser | |
| XM_011510642.1:c.1030A>T | XP_011508944.1:p.Thr344Ser | |
| XM_011510643.1:c.1030A>T | XP_011508945.1:p.Thr344Ser | |
| XM_011510644.1:c.1030A>T | XP_011508946.1:p.Thr344Ser | |
| NM_001122633.3:c.1030A>T | NP_001116105.2:p.Thr344Ser | |
| NM_001369256.1:c.1063A>T | NP_001356185.1:p.Thr355Ser | |
| NM_001369257.1:c.1030A>T | NP_001356186.1:p.Thr344Ser | |
| NM_001875.5:c.1030A>T MANE Select | NP_001866.2:p.Thr344Ser | |
| NR_161225.1:n.1942A>T |