Linked Data
dbSNP Id:
rs779087273
ExAC:
8:87588192 G / A
gnomAD v2:
8-87588192-G-A
gnomAD v4:
8-86575964-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575964G>A , CM000670.2:g.86575964G>A | GRCh38 |
| NC_000008.10:g.87588192G>A , CM000670.1:g.87588192G>A | GRCh37 |
| NC_000008.9:g.87657308G>A | NCBI36 |
| NG_016980.1:g.172712C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2270C>T MANE Select | ENSP00000316605.5:p.Thr757Ile | |
| ENST00000681546.1:n.2090C>T | ||
| ENST00000681746.1:c.*681C>T | ENSP00000505959.1:n.*681C>T | |
| ENST00000320005.5:c.2270C>T | ENSP00000316605.5:p.Thr757Ile | |
| ENST00000517327.5:c.276+2725C>T | ENSP00000428329.1:n.276+2725C>T | |
| NM_019098.4:c.2270C>T | NP_061971.3:p.Thr757Ile | |
| XM_011517138.1:c.1856C>T | XP_011515440.1:p.Thr619Ile | |
| XM_011517138.2:c.1856C>T | XP_011515440.1:p.Thr619Ile | |
| NM_019098.5:c.2270C>T MANE Select | NP_061971.3:p.Thr757Ile |