Linked Data
ClinVar Variation Id:
6427
dbSNP Id:
rs267607054
ExAC:
5:131726524 C / T
gnomAD v2:
5-131726524-C-T
gnomAD v3:
5-132390832-C-T
gnomAD v4:
5-132390832-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390832C>T , CM000667.2:g.132390832C>T | GRCh38 |
| NC_000005.9:g.131726524C>T , CM000667.1:g.131726524C>T | GRCh37 |
| NC_000005.8:g.131754423C>T | NCBI36 |
| NG_008982.1:g.26124C>T | |
| NG_008982.2:g.26129C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1036C>T | ENSP00000388838.2:p.Arg346Trp | |
| ENST00000435065.7:c.1267C>T | ENSP00000402760.2:p.Arg423Trp | |
| ENST00000448810.6:c.*47C>T | ENSP00000401860.2:n.*47C>T | |
| ENST00000685543.1:n.1336C>T | ||
| ENST00000686757.1:c.*359C>T | ENSP00000510721.1:n.*359C>T | |
| ENST00000687740.1:n.3880C>T | ||
| ENST00000688151.1:n.2505C>T | ||
| ENST00000689271.1:c.1042C>T | ENSP00000510797.1:p.Arg348Trp | |
| ENST00000690900.1:c.*359C>T | ENSP00000510703.1:n.*359C>T | |
| ENST00000692212.1:n.2807C>T | ||
| ENST00000692355.1:c.448C>T | ||
| ENST00000692413.1:c.1177C>T | ENSP00000509374.1:p.Arg393Trp | |
| ENST00000692825.1:c.1263C>T | ENSP00000509447.1:n.1263C>T | |
| ENST00000693308.1:c.1243C>T | ENSP00000509770.1:p.Arg415Trp | |
| ENST00000693763.1:n.2355C>T | ||
| ENST00000245407.8:c.1195C>T MANE Select | ENSP00000245407.3:p.Arg399Trp | |
| ENST00000245407.7:c.1195C>T | ENSP00000245407.3:p.Arg399Trp | |
| ENST00000435065.6:c.1267C>T | ENSP00000402760.2:p.Arg423Trp | |
| ENST00000447841.5:c.112-1601C>T | ||
| ENST00000448810.5:c.457C>T | ||
| ENST00000461013.5:n.8617C>T | ||
| ENST00000475308.1:n.1873C>T | ||
| ENST00000479605.5:n.298C>T | ||
| NM_001308122.1:c.1267C>T | NP_001295051.1:p.Arg423Trp | |
| NM_003060.3:c.1195C>T | NP_003051.1:p.Arg399Trp | |
| XM_011543590.1:c.577C>T | XP_011541892.1:p.Arg193Trp | |
| XR_427718.1:n.1555C>T | ||
| XR_948290.1:n.1394-1601C>T | ||
| XR_948291.1:n.1549C>T | ||
| XM_011543590.2:c.577C>T | XP_011541892.1:p.Arg193Trp | |
| XM_017009778.2:c.667C>T | XP_016865267.1:p.Arg223Trp | |
| XR_001742215.1:n.1450C>T | ||
| XR_001742216.1:n.1469C>T | ||
| XR_427718.2:n.1555C>T | ||
| XR_948290.2:n.1394-1601C>T | ||
| XR_948291.2:n.1549C>T | ||
| NM_003060.4:c.1195C>T MANE Select | NP_003051.1:p.Arg399Trp | |
| NM_001308122.2:c.1267C>T | NP_001295051.1:p.Arg423Trp |