Linked Data
ClinVar Variation Id:
370010
dbSNP Id:
rs28371685
ExAC:
10:96740981 C / T
gnomAD v2:
10-96740981-C-T
gnomAD v3:
10-94981224-C-T
gnomAD v4:
10-94981224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981224C>T , CM000672.2:g.94981224C>T | GRCh38 |
| NC_000010.10:g.96740981C>T , CM000672.1:g.96740981C>T | GRCh37 |
| NC_000010.9:g.96730971C>T | NCBI36 |
| NG_008385.1:g.47567C>T | |
| NG_008385.2:g.48067C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1003C>T MANE Select | ENSP00000260682.6:p.Arg335Trp | |
| ENST00000643112.1:c.*12C>T | ENSP00000496202.1:n.*12C>T | |
| ENST00000260682.6:c.1003C>T | ENSP00000260682.6:p.Arg335Trp | |
| NM_000771.3:c.1003C>T | NP_000762.2:p.Arg335Trp | |
| NM_000771.4:c.1003C>T MANE Select | NP_000762.2:p.Arg335Trp |