Linked Data
dbSNP Id:
rs780800426
ExAC:
1:230845809 G / A
gnomAD v2:
1-230845809-G-A
gnomAD v4:
1-230710063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230710063G>A , CM000663.2:g.230710063G>A | GRCh38 |
| NC_000001.10:g.230845809G>A , CM000663.1:g.230845809G>A | GRCh37 |
| NC_000001.9:g.228912432G>A | NCBI36 |
| NG_008836.1:g.9528C>T | |
| NG_008836.2:g.9528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366667.6:c.761C>T MANE Select | ENSP00000355627.5:p.Thr254Ile | |
| ENST00000679684.1:c.761C>T | ENSP00000505981.1:p.Thr254Ile | |
| ENST00000679738.1:c.761C>T | ENSP00000505063.1:p.Thr254Ile | |
| ENST00000679802.1:c.761C>T | ENSP00000505184.1:p.Thr254Ile | |
| ENST00000679854.1:n.1272C>T | ||
| ENST00000679957.1:c.761C>T | ENSP00000506646.1:p.Thr254Ile | |
| ENST00000680041.1:c.761C>T | ENSP00000504866.1:p.Thr254Ile | |
| ENST00000680783.1:c.761C>T | ENSP00000506329.1:p.Thr254Ile | |
| ENST00000681269.1:c.761C>T | ENSP00000505985.1:p.Thr254Ile | |
| ENST00000681347.1:n.1272C>T | ||
| ENST00000681514.1:c.761C>T | ENSP00000505963.1:p.Thr254Ile | |
| ENST00000681772.1:c.761C>T | ENSP00000505829.1:p.Thr254Ile | |
| ENST00000366667.4:c.788C>T | ENSP00000355627.4:p.Thr263Ile | |
| NM_000029.3:c.788C>T | NP_000020.1:p.Thr263Ile | |
| NM_000029.4:c.788C>T | NP_000020.1:p.Thr263Ile | |
| NM_001382817.3:c.761C>T | NP_001369746.2:p.Thr254Ile | |
| NM_001384479.1:c.761C>T MANE Select | NP_001371408.1:p.Thr254Ile |