Linked Data
dbSNP Id:
rs768797308
ExAC:
3:180377271 T / A
gnomAD v2:
3-180377271-T-A
gnomAD v4:
3-180659483-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659483T>A , CM000665.2:g.180659483T>A | GRCh38 |
| NC_000003.11:g.180377271T>A , CM000665.1:g.180377271T>A | GRCh37 |
| NC_000003.10:g.181859965T>A | NCBI36 |
| NG_029581.1:g.25013A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.707A>T MANE Select | ENSP00000417960.2:p.Lys236Met | |
| ENST00000650641.1:n.786A>T | ||
| ENST00000650889.1:n.879A>T | ||
| ENST00000651046.1:c.707A>T | ENSP00000499175.1:p.Lys236Met | |
| ENST00000651818.1:n.849A>T | ||
| ENST00000652024.1:n.798A>T | ||
| ENST00000652408.1:n.844A>T | ||
| ENST00000442201.6:c.707A>T | ENSP00000405708.2:p.Lys236Met | |
| ENST00000476379.5:c.707A>T | ENSP00000417960.1:p.Lys236Met | |
| NM_181426.1:c.707A>T | NP_852091.1:p.Lys236Met | |
| NM_181426.2:c.707A>T MANE Select | NP_852091.1:p.Lys236Met |