Linked Data
ClinVar Variation Id:
207590
dbSNP Id:
rs201034755
ExAC:
11:6636547 G / A
gnomAD v2:
11-6636547-G-A
gnomAD v3:
11-6615316-G-A
gnomAD v4:
11-6615316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615316G>A , CM000673.2:g.6615316G>A | GRCh38 |
| NC_000011.9:g.6636547G>A , CM000673.1:g.6636547G>A | GRCh37 |
| NC_000011.8:g.6593123G>A | NCBI36 |
| NG_008653.1:g.9146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1166C>T | ENSP00000507321.1:p.Thr389Met | |
| ENST00000299427.12:c.1280C>T MANE Select | ENSP00000299427.6:p.Thr427Met | |
| ENST00000524611.2:n.140C>T | ||
| ENST00000524924.2:n.400C>T | ||
| ENST00000533371.6:c.551C>T | ENSP00000437066.1:p.Thr184Met | |
| ENST00000642892.1:c.551C>T | ENSP00000494165.1:p.Thr184Met | |
| ENST00000643342.1:c.353C>T | ||
| ENST00000643439.1:c.*1020C>T | ENSP00000495849.1:n.*1020C>T | |
| ENST00000643479.1:n.1466C>T | ||
| ENST00000643516.1:c.789C>T | ||
| ENST00000644218.1:c.1091C>T | ENSP00000493574.1:p.Thr364Met | |
| ENST00000644683.1:c.*733C>T | ENSP00000494085.1:n.*733C>T | |
| ENST00000644810.1:c.1001C>T | ENSP00000495895.1:p.Thr334Met | |
| ENST00000644831.1:n.1456C>T | ||
| ENST00000644933.1:c.*146C>T | ENSP00000496133.1:n.*146C>T | |
| ENST00000645285.1:c.*146C>T | ENSP00000495058.1:n.*146C>T | |
| ENST00000645331.1:n.2485C>T | ||
| ENST00000645620.1:c.551C>T | ENSP00000493657.1:p.Thr184Met | |
| ENST00000646691.1:n.1167C>T | ||
| ENST00000646777.1:n.1613C>T | ||
| ENST00000647016.1:n.1760C>T | ||
| ENST00000647152.1:c.551C>T | ENSP00000495893.1:p.Thr184Met | |
| ENST00000647209.1:c.*1149C>T | ENSP00000495558.1:n.*1149C>T | |
| ENST00000647346.1:n.2300C>T | ||
| ENST00000299427.10:c.1280C>T | ENSP00000299427.6:p.Thr427Met | |
| ENST00000524611.1:n.158C>T | ||
| ENST00000524924.1:n.235C>T | ||
| ENST00000532191.1:n.333C>T | ||
| ENST00000533371.5:c.551C>T | ENSP00000437066.1:p.Thr184Met | |
| ENST00000611494.4:c.1280C>T | ENSP00000484546.1:p.Thr427Met | |
| NM_000391.3:c.1280C>T | NP_000382.3:p.Thr427Met | |
| NM_000391.4:c.1280C>T MANE Select | NP_000382.3:p.Thr427Met |