Linked Data
ClinVar Variation Id:
6523
ClinVar RCV Id:
RCV003231091
dbSNP Id:
rs104894629
gnomAD v2:
17-46024047-C-T
gnomAD v3:
17-47946681-C-T
gnomAD v4:
17-47946681-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946681C>T , CM000679.2:g.47946681C>T | GRCh38 |
| NC_000017.10:g.46024047C>T , CM000679.1:g.46024047C>T | GRCh37 |
| NC_000017.9:g.43379046C>T | NCBI36 |
| NG_008744.1:g.10159C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225573.5:c.556C>T | ENSP00000225573.5:p.Arg186Trp | |
| ENST00000434554.7:c.631C>T | ENSP00000399960.3:p.Arg211Trp | |
| ENST00000582171.6:c.*350C>T | ENSP00000463994.1:n.*350C>T | |
| ENST00000583599.6:c.445C>T | ENSP00000463919.2:p.Arg149Trp | |
| ENST00000584061.6:c.616C>T | ENSP00000463972.2:p.Arg206Trp | |
| ENST00000584806.2:n.354C>T | ||
| ENST00000641285.1:n.465C>T | ||
| ENST00000641305.1:n.2184C>T | ||
| ENST00000641323.1:c.*704C>T | ENSP00000492965.1:n.*704C>T | |
| ENST00000641427.1:n.685C>T | ||
| ENST00000641511.1:c.417C>T | ||
| ENST00000641703.1:c.401C>T | ENSP00000493219.1:n.401C>T | |
| ENST00000641709.1:c.*507C>T | ENSP00000493349.1:n.*507C>T | |
| ENST00000641856.1:c.*1193C>T | ENSP00000493224.1:n.*1193C>T | |
| ENST00000642017.2:c.685C>T MANE Select | ENSP00000493302.2:p.Arg229Trp | |
| ENST00000225573.4:c.685C>T | ENSP00000225573.4:p.Arg229Trp | |
| ENST00000434554.6:c.556C>T | ENSP00000399960.2:p.Arg186Trp | |
| ENST00000582171.5:c.*350C>T | ENSP00000463994.1:n.*350C>T | |
| ENST00000584806.1:n.354C>T | ||
| ENST00000585320.5:c.*167C>T | ENSP00000462345.1:n.*167C>T | |
| NM_018129.3:c.685C>T | NP_060599.1:p.Arg229Trp | |
| XM_005257500.2:c.445C>T | XP_005257557.1:p.Arg149Trp | |
| XM_011524968.1:c.400C>T | XP_011523270.1:p.Arg134Trp | |
| XM_005257500.3:c.445C>T | XP_005257557.1:p.Arg149Trp | |
| XM_011524968.2:c.400C>T | XP_011523270.1:p.Arg134Trp | |
| XM_017024813.1:c.445C>T | XP_016880302.1:p.Arg149Trp | |
| NM_018129.4:c.685C>T MANE Select | NP_060599.1:p.Arg229Trp |