Linked Data
dbSNP Id:
rs11545078
ExAC:
8:63938764 G / A
gnomAD v2:
8-63938764-G-A
gnomAD v3:
8-63026205-G-A
gnomAD v4:
8-63026205-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63026205G>A , CM000670.2:g.63026205G>A | GRCh38 |
| NC_000008.10:g.63938764G>A , CM000670.1:g.63938764G>A | GRCh37 |
| NC_000008.9:g.64101318G>A | NCBI36 |
| NG_028126.1:g.17847C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260118.7:c.452C>T MANE Select | ENSP00000260118.6:p.Thr151Ile | |
| ENST00000518113.2:c.452C>T | ENSP00000504520.1:p.Thr151Ile | |
| ENST00000518466.6:n.415C>T | ||
| ENST00000523788.2:n.4264C>T | ||
| ENST00000677327.1:n.1091C>T | ||
| ENST00000677459.1:c.*367C>T | ENSP00000503731.1:n.*367C>T | |
| ENST00000677482.1:c.452C>T | ENSP00000504590.1:p.Thr151Ile | |
| ENST00000677919.1:c.29C>T | ENSP00000504579.1:p.Thr10Ile | |
| ENST00000678045.1:n.1407C>T | ||
| ENST00000678069.1:n.3387C>T | ||
| ENST00000679326.1:c.452C>T | ENSP00000504262.1:p.Thr151Ile | |
| ENST00000260118.6:c.452C>T | ENSP00000260118.6:p.Thr151Ile | |
| ENST00000518113.1:n.227C>T | ||
| ENST00000518466.5:n.29C>T | ||
| ENST00000520609.5:n.485C>T | ||
| NM_003878.2:c.452C>T | NP_003869.1:p.Thr151Ile | |
| XM_011517623.1:c.452C>T | XP_011515925.1:p.Thr151Ile | |
| XM_011517623.3:c.452C>T | XP_011515925.1:p.Thr151Ile | |
| NM_003878.3:c.452C>T MANE Select | NP_003869.1:p.Thr151Ile |