Linked Data
ClinVar Variation Id:
488636
dbSNP Id:
rs139515727
ExAC:
6:30883762 C / T
gnomAD v2:
6-30883762-C-T
gnomAD v3:
6-30915985-C-T
gnomAD v4:
6-30915985-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30915985C>T , CM000668.2:g.30915985C>T | GRCh38 |
| NC_000006.11:g.30883762C>T , CM000668.1:g.30883762C>T | GRCh37 |
| NC_000006.10:g.30991741C>T | NCBI36 |
| NG_034224.1:g.6778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.511C>T | ENSP00000441000.2:p.Arg171Trp | |
| ENST00000672801.1:c.511C>T | ENSP00000500615.1:p.Arg171Trp | |
| ENST00000676266.1:c.511C>T MANE Select | ENSP00000502585.1:p.Arg171Trp | |
| ENST00000321897.9:c.511C>T | ENSP00000316092.5:p.Arg171Trp | |
| ENST00000428017.5:c.511C>T | ENSP00000403749.1:p.Arg171Trp | |
| ENST00000467717.5:n.389C>T | ||
| ENST00000477288.5:n.3099C>T | ||
| ENST00000541562.5:c.601C>T | ENSP00000441000.1:p.Arg201Trp | |
| ENST00000542001.5:c.511C>T | ENSP00000438200.2:p.Arg171Trp | |
| ENST00000625423.2:c.91C>T | ENSP00000485818.1:p.Arg31Trp | |
| NM_001167733.2:c.91C>T | NP_001161205.1:p.Arg31Trp | |
| NM_001167734.1:c.601C>T | NP_001161206.1:p.Arg201Trp | |
| NM_020442.5:c.511C>T | NP_065175.4:p.Arg171Trp | |
| NM_001167733.3:c.91C>T | NP_001161205.1:p.Arg31Trp | |
| NM_001167734.2:c.601C>T | NP_001161206.1:p.Arg201Trp | |
| NM_020442.6:c.511C>T MANE Select | NP_065175.4:p.Arg171Trp |