Linked Data
ClinVar Variation Id:
469102
dbSNP Id:
rs754476100
ExAC:
7:66098367 C / T
gnomAD v2:
7-66098367-C-T
gnomAD v4:
7-66633380-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66633380C>T , CM000669.2:g.66633380C>T | GRCh38 |
| NC_000007.13:g.66098367C>T , CM000669.1:g.66098367C>T | GRCh37 |
| NC_000007.12:g.65735802C>T | NCBI36 |
| NG_028110.1:g.9500C>T | |
| NG_028110.2:g.9500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.250C>T | ENSP00000275532.4:p.Arg84Trp | |
| ENST00000449064.6:c.228C>T | ||
| ENST00000503687.2:c.144+4172C>T | ENSP00000421074.1:n.144+4172C>T | |
| ENST00000638524.1:c.139+4172C>T | ||
| ENST00000638540.1:c.118+4172C>T | ||
| ENST00000639828.2:c.250C>T MANE Select | ENSP00000492240.1:p.Arg84Trp | |
| ENST00000639879.1:c.250C>T | ENSP00000492161.1:p.Arg84Trp | |
| ENST00000640234.1:c.120C>T | ||
| ENST00000640385.1:c.250C>T | ENSP00000491193.1:p.Arg84Trp | |
| ENST00000640851.1:c.250C>T | ENSP00000492577.1:p.Arg84Trp | |
| ENST00000275532.7:c.250C>T | ENSP00000275532.3:p.Arg84Trp | |
| ENST00000443322.1:c.250C>T | ENSP00000411624.1:p.Arg84Trp | |
| ENST00000449064.5:c.144+4172C>T | ENSP00000388463.1:n.144+4172C>T | |
| ENST00000503687.1:c.144+4172C>T | ENSP00000421074.1:n.144+4172C>T | |
| NM_001167961.2:c.250C>T | NP_001161433.1:p.Arg84Trp | |
| NM_153033.4:c.250C>T | NP_694578.1:p.Arg84Trp | |
| NM_153033.5:c.250C>T MANE Select | NP_694578.1:p.Arg84Trp |