Linked Data
ClinVar Variation Id:
906097
dbSNP Id:
rs369638886
ExAC:
6:31914359 A / T
gnomAD v2:
6-31914359-A-T
gnomAD v3:
6-31946582-A-T
gnomAD v4:
6-31946582-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946582A>T , CM000668.2:g.31946582A>T | GRCh38 |
| NC_000006.11:g.31914359A>T , CM000668.1:g.31914359A>T | GRCh37 |
| NC_000006.10:g.32022338A>T | NCBI36 |
| NG_008191.1:g.5639A>T , LRG_136:g.5639A>T | |
| NG_011730.1:g.24094A>T , LRG_26:g.24094A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.451A>T | ||
| ENST00000483004.2:c.274A>T | ENSP00000419887.2:p.Thr92Ser | |
| ENST00000497841.6:c.274A>T | ENSP00000513847.1:p.Thr92Ser | |
| ENST00000698628.1:c.274A>T | ENSP00000513848.1:p.Thr92Ser | |
| ENST00000698629.1:n.451A>T | ||
| ENST00000698630.1:n.435A>T | ||
| ENST00000698631.1:n.430A>T | ||
| ENST00000698632.1:n.402A>T | ||
| ENST00000698633.1:n.372A>T | ||
| ENST00000698636.1:n.496A>T | ||
| ENST00000425368.7:c.274A>T MANE Select | ENSP00000416561.2:p.Thr92Ser | |
| ENST00000425368.6:c.274A>T | ENSP00000416561.2:p.Thr92Ser | |
| ENST00000452035.6:n.274A>T | ||
| ENST00000456570.5:c.1780A>T | ENSP00000410815.1:p.Thr594Ser | |
| ENST00000460718.5:c.161A>T | ENSP00000417793.1:p.Asp54Val | |
| ENST00000472581.1:n.521A>T | ||
| ENST00000475617.5:c.274A>T | ENSP00000420090.1:p.Thr92Ser | |
| ENST00000477310.1:c.1352-425A>T | ENSP00000418996.1:n.1352-425A>T | |
| NM_001710.5:c.274A>T , LRG_136t1:c.274A>T | NP_001701.2:p.Thr92Ser | |
| NM_001710.6:c.274A>T MANE Select | NP_001701.2:p.Thr92Ser |