Linked Data
gnomAD v4:
17-42909417-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909417A>T , CM000679.2:g.42909417A>T | GRCh38 |
| NC_000017.10:g.41061434A>T , CM000679.1:g.41061434A>T | GRCh37 |
| NC_000017.9:g.38314960A>T | NCBI36 |
| NG_011808.1:g.13620A>T , LRG_147:g.13620A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.561A>T MANE Select | ENSP00000253801.1:p.Ser187= | |
| ENST00000253801.6:c.561A>T | ENSP00000253801.1:p.Ser187= | |
| ENST00000585489.1:c.447-1498A>T | ENSP00000466202.1:n.447-1498A>T | |
| ENST00000592383.5:c.484A>T | ENSP00000465958.1:p.Arg162Trp | |
| NM_000151.3:c.561A>T | NP_000142.2:p.Ser187= | |
| NM_001270397.1:c.484A>T | NP_001257326.1:p.Arg162Trp | |
| NM_000151.4:c.561A>T MANE Select | NP_000142.2:p.Ser187= | |
| NM_001270397.2:c.484A>T | NP_001257326.1:p.Arg162Trp |