Linked Data
ClinVar Variation Id:
9293
dbSNP Id:
rs80338908
gnomAD v2:
9-27206760-C-T
gnomAD v3:
9-27206762-C-T
gnomAD v4:
9-27206762-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27206762C>T , CM000671.2:g.27206762C>T | GRCh38 |
| NC_000009.11:g.27206760C>T , CM000671.1:g.27206760C>T | GRCh37 |
| NC_000009.10:g.27196760C>T | NCBI36 |
| NG_011828.1:g.102614C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380036.10:c.2545C>T MANE Select | ENSP00000369375.4:p.Arg849Trp | |
| ENST00000380036.8:c.2545C>T | ENSP00000369375.4:p.Arg849Trp | |
| ENST00000406359.8:c.2416C>T | ENSP00000383977.4:p.Arg806Trp | |
| ENST00000519097.5:c.2101C>T | ENSP00000430686.1:p.Arg701Trp | |
| ENST00000615002.4:c.*1046C>T | ENSP00000480251.1:n.*1046C>T | |
| NM_000459.4:c.2545C>T | NP_000450.2:p.Arg849Trp | |
| NM_001290077.1:c.2416C>T | NP_001277006.1:p.Arg806Trp | |
| NM_001290078.1:c.2101C>T | NP_001277007.1:p.Arg701Trp | |
| XM_005251561.1:c.2542C>T | XP_005251618.1:p.Arg848Trp | |
| XM_005251563.1:c.2413C>T | XP_005251620.1:p.Arg805Trp | |
| XM_005251561.2:c.2542C>T | XP_005251618.1:p.Arg848Trp | |
| XM_005251563.2:c.2413C>T | XP_005251620.1:p.Arg805Trp | |
| NM_000459.5:c.2545C>T MANE Select | NP_000450.3:p.Arg849Trp | |
| NM_001375475.1:c.2542C>T | NP_001362404.1:p.Arg848Trp | |
| NM_001375476.1:c.2413C>T | NP_001362405.1:p.Arg805Trp |