Linked Data
ClinVar Variation Id:
846973
dbSNP Id:
rs990307718
gnomAD v2:
15-72104170-C-T
gnomAD v3:
15-71811830-C-T
gnomAD v4:
15-71811830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811830C>T , CM000677.2:g.71811830C>T | GRCh38 |
| NC_000015.9:g.72104170C>T , CM000677.1:g.72104170C>T | GRCh37 |
| NC_000015.8:g.69891224C>T | NCBI36 |
| NG_009113.2:g.6276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.310C>T MANE Select | ENSP00000482504.1:p.Arg104Trp | |
| ENST00000617575.4:c.310C>T | ENSP00000482504.1:p.Arg104Trp | |
| ENST00000621098.1:c.310C>T | ENSP00000479962.1:p.Arg104Trp | |
| ENST00000621736.4:c.46C>T | ENSP00000479254.1:p.Arg16Trp | |
| NM_014249.3:c.310C>T | NP_055064.1:p.Arg104Trp | |
| NM_016346.3:c.310C>T | NP_057430.1:p.Arg104Trp | |
| XM_011521146.1:c.46C>T | XP_011519448.1:p.Arg16Trp | |
| NM_014249.4:c.310C>T MANE Select | NP_055064.1:p.Arg104Trp | |
| NM_016346.4:c.310C>T | NP_057430.1:p.Arg104Trp |