Linked Data
dbSNP Id:
rs764638219
ExAC:
15:48733987 T / A
gnomAD v2:
15-48733987-T-A
gnomAD v4:
15-48441790-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48441790T>A , CM000677.2:g.48441790T>A | GRCh38 |
| NC_000015.9:g.48733987T>A , CM000677.1:g.48733987T>A | GRCh37 |
| NC_000015.8:g.46521279T>A | NCBI36 |
| NG_008805.2:g.208999A>T , LRG_778:g.208999A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6094A>T | ENSP00000453958.2:p.Thr2032Ser | |
| ENST00000674301.2:c.6094A>T | ENSP00000501333.2:p.Thr2032Ser | |
| ENST00000316623.10:c.6094A>T MANE Select | ENSP00000325527.5:p.Thr2032Ser | |
| ENST00000674301.1:c.1093A>T | ENSP00000501333.1:p.Thr365Ser | |
| ENST00000316623.9:c.6094A>T | ENSP00000325527.5:p.Thr2032Ser | |
| ENST00000537463.6:c.*1857A>T | ENSP00000440294.2:n.*1857A>T | |
| ENST00000559133.5:c.1401A>T | ||
| ENST00000560820.1:n.214A>T | ||
| NM_000138.4:c.6094A>T , LRG_778t1:c.6094A>T | NP_000129.3:p.Thr2032Ser | |
| NM_000138.5:c.6094A>T MANE Select | NP_000129.3:p.Thr2032Ser |