Linked Data
ClinVar Variation Id:
842556
ClinVar RCV Id:
RCV001044992
dbSNP Id:
rs1382959301
gnomAD v3:
1-36466631-G-A
gnomAD v4:
1-36466631-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36466631G>A , CM000663.2:g.36466631G>A | GRCh38 |
| NC_000001.10:g.36932232G>A , CM000663.1:g.36932232G>A | GRCh37 |
| NC_000001.9:g.36704819G>A | NCBI36 |
| NG_016270.1:g.21278C>T , LRG_144:g.21278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464465.7:c.2135C>T | ENSP00000435218.2:p.Thr712Ile | |
| ENST00000487540.7:c.*531C>T | ENSP00000514169.2:n.*531C>T | |
| ENST00000699089.1:n.3217C>T | ||
| ENST00000699090.1:c.1841C>T | ENSP00000514168.1:p.Thr614Ile | |
| ENST00000373106.6:c.2237C>T MANE Select | ENSP00000362198.2:p.Thr746Ile | |
| ENST00000331941.6:c.2237C>T | ENSP00000332180.5:p.Thr746Ile | |
| ENST00000361632.8:c.2237C>T | ENSP00000355406.4:p.Thr746Ile | |
| ENST00000373103.5:c.2318C>T | ENSP00000362195.1:p.Thr773Ile | |
| ENST00000373104.5:c.2237C>T | ENSP00000362196.1:p.Thr746Ile | |
| ENST00000373106.5:c.2237C>T | ENSP00000362198.1:p.Thr746Ile | |
| ENST00000464465.6:c.892C>T | ||
| ENST00000480825.6:n.5487C>T | ||
| ENST00000484762.1:n.628C>T | ||
| ENST00000487540.6:n.1418C>T | ||
| NM_000760.3:c.2237C>T | NP_000751.1:p.Thr746Ile | |
| NM_156039.3:c.2318C>T , LRG_144t1:c.2318C>T | NP_724781.1:p.Thr773Ile | |
| NM_172313.2:c.2237C>T | NP_758519.1:p.Thr746Ile | |
| XM_005270493.1:c.2234C>T | XP_005270550.1:p.Thr745Ile | |
| XM_011540748.1:c.2318C>T | XP_011539050.1:p.Thr773Ile | |
| XM_011540749.1:c.2315C>T | XP_011539051.1:p.Thr772Ile | |
| XM_011540750.1:c.1646C>T | XP_011539052.1:p.Thr549Ile | |
| XM_011540748.3:c.2318C>T | XP_011539050.1:p.Thr773Ile | |
| XM_017000370.1:c.2318C>T | XP_016855859.1:p.Thr773Ile | |
| NM_000760.4:c.2237C>T MANE Select | NP_000751.1:p.Thr746Ile | |
| NM_172313.3:c.2237C>T | NP_758519.1:p.Thr746Ile |