Linked Data
dbSNP Id:
rs28360472
ExAC:
12:121670276 A / G
gnomAD v2:
12-121670276-A-G
gnomAD v3:
12-121232473-A-G
gnomAD v4:
12-121232473-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121232473A>G , CM000674.2:g.121232473A>G | GRCh38 |
| NC_000012.11:g.121670276A>G , CM000674.1:g.121670276A>G | GRCh37 |
| NC_000012.10:g.120154659A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337233.9:c.944A>G MANE Select | ENSP00000336607.4:p.Tyr315Cys | |
| ENST00000337233.8:c.944A>G | ENSP00000336607.4:p.Tyr315Cys | |
| ENST00000359949.11:c.992A>G | ENSP00000353032.7:p.Tyr331Cys | |
| ENST00000499638.6:n.1937A>G | ||
| ENST00000538417.2:c.831A>G | ||
| ENST00000541187.5:n.789A>G | ||
| ENST00000542067.5:c.863A>G | ENSP00000438329.1:p.Tyr288Cys | |
| ENST00000543171.5:c.944A>G | ENSP00000438131.2:p.Tyr315Cys | |
| ENST00000543318.5:c.*535A>G | ENSP00000444274.1:n.*535A>G | |
| ENST00000543430.5:n.895A>G | ||
| ENST00000543984.5:c.*637A>G | ENSP00000439386.1:n.*637A>G | |
| NM_001256796.1:c.992A>G | NP_001243725.1:p.Tyr331Cys | |
| NM_001261397.1:c.863A>G | NP_001248326.1:p.Tyr288Cys | |
| NM_001261398.1:c.944A>G | NP_001248327.1:p.Tyr315Cys | |
| NM_002560.2:c.944A>G | NP_002551.2:p.Tyr315Cys | |
| NR_046372.1:n.1286A>G | ||
| NR_046373.1:n.1100A>G | ||
| XM_011538416.1:c.554A>G | XP_011536718.1:p.Tyr185Cys | |
| XR_944559.1:n.981A>G | ||
| XM_011538416.2:c.554A>G | XP_011536718.1:p.Tyr185Cys | |
| XR_001748726.2:n.927A>G | ||
| XR_001748727.1:n.1076A>G | ||
| XR_001748728.1:n.1005A>G | ||
| XR_001748729.2:n.1013A>G | ||
| XR_944559.2:n.980A>G | ||
| NM_001256796.2:c.992A>G | NP_001243725.1:p.Tyr331Cys | |
| NM_001261397.2:c.863A>G | NP_001248326.1:p.Tyr288Cys | |
| NM_001261398.2:c.944A>G | NP_001248327.1:p.Tyr315Cys | |
| NM_002560.3:c.944A>G MANE Select | NP_002551.2:p.Tyr315Cys | |
| NR_046372.2:n.1018A>G | ||
| NR_046373.2:n.832A>G |