Linked Data
ClinVar Variation Id:
445971
dbSNP Id:
rs113058506
ExAC:
17:14110489 C / T
gnomAD v2:
17-14110489-C-T
gnomAD v3:
17-14207172-C-T
gnomAD v4:
17-14207172-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14207172C>T , CM000679.2:g.14207172C>T | GRCh38 |
| NC_000017.10:g.14110489C>T , CM000679.1:g.14110489C>T | GRCh37 |
| NC_000017.9:g.14051214C>T | NCBI36 |
| NG_008034.1:g.142771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.1291C>T MANE Select | ENSP00000261643.3:p.Arg431Trp | |
| ENST00000664217.1:c.1291C>T | ENSP00000499396.1:p.Arg431Trp | |
| ENST00000670279.1:c.929-2337C>T | ENSP00000499450.1:n.929-2337C>T | |
| ENST00000261643.7:c.1291C>T | ENSP00000261643.3:p.Arg431Trp | |
| ENST00000580561.1:c.*780C>T | ENSP00000462190.1:n.*780C>T | |
| ENST00000581931.5:c.*659C>T | ENSP00000462512.1:n.*659C>T | |
| NM_001303.3:c.1291C>T | NP_001294.2:p.Arg431Trp | |
| XM_011523658.1:c.715C>T | XP_011521960.1:p.Arg239Trp | |
| XR_933974.1:n.1032-2337C>T | ||
| NM_001303.4:c.1291C>T MANE Select | NP_001294.2:p.Arg431Trp |