Linked Data
ClinVar Variation Id:
589871
dbSNP Id:
rs139643093
ExAC:
17:46024059 C / T
gnomAD v2:
17-46024059-C-T
gnomAD v3:
17-47946693-C-T
gnomAD v4:
17-47946693-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946693C>T , CM000679.2:g.47946693C>T | GRCh38 |
| NC_000017.10:g.46024059C>T , CM000679.1:g.46024059C>T | GRCh37 |
| NC_000017.9:g.43379058C>T | NCBI36 |
| NG_008744.1:g.10171C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225573.5:c.568C>T | ENSP00000225573.5:p.Arg190Trp | |
| ENST00000434554.7:c.643C>T | ENSP00000399960.3:p.Arg215Trp | |
| ENST00000582171.6:c.*362C>T | ENSP00000463994.1:n.*362C>T | |
| ENST00000583599.6:c.457C>T | ENSP00000463919.2:p.Arg153Trp | |
| ENST00000584061.6:c.628C>T | ENSP00000463972.2:p.Arg210Trp | |
| ENST00000584806.2:n.366C>T | ||
| ENST00000641285.1:n.477C>T | ||
| ENST00000641305.1:n.2196C>T | ||
| ENST00000641323.1:c.*716C>T | ENSP00000492965.1:n.*716C>T | |
| ENST00000641427.1:n.697C>T | ||
| ENST00000641511.1:c.429C>T | ||
| ENST00000641703.1:c.413C>T | ENSP00000493219.1:n.413C>T | |
| ENST00000641709.1:c.*519C>T | ENSP00000493349.1:n.*519C>T | |
| ENST00000641856.1:c.*1205C>T | ENSP00000493224.1:n.*1205C>T | |
| ENST00000642017.2:c.697C>T MANE Select | ENSP00000493302.2:p.Arg233Trp | |
| ENST00000225573.4:c.697C>T | ENSP00000225573.4:p.Arg233Trp | |
| ENST00000434554.6:c.568C>T | ENSP00000399960.2:p.Arg190Trp | |
| ENST00000582171.5:c.*362C>T | ENSP00000463994.1:n.*362C>T | |
| ENST00000584806.1:n.366C>T | ||
| ENST00000585320.5:c.*179C>T | ENSP00000462345.1:n.*179C>T | |
| NM_018129.3:c.697C>T | NP_060599.1:p.Arg233Trp | |
| XM_005257500.2:c.457C>T | XP_005257557.1:p.Arg153Trp | |
| XM_011524968.1:c.412C>T | XP_011523270.1:p.Arg138Trp | |
| XM_005257500.3:c.457C>T | XP_005257557.1:p.Arg153Trp | |
| XM_011524968.2:c.412C>T | XP_011523270.1:p.Arg138Trp | |
| XM_017024813.1:c.457C>T | XP_016880302.1:p.Arg153Trp | |
| NM_018129.4:c.697C>T MANE Select | NP_060599.1:p.Arg233Trp |