Linked Data
ClinVar Variation Id:
13987
ClinVar RCV Id:
RCV000015024
dbSNP Id:
rs104894023
gnomAD v4:
7-128254572-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128254572C>T , CM000669.2:g.128254572C>T | GRCh38 |
| NC_000007.13:g.127894625C>T , CM000669.1:g.127894625C>T | GRCh37 |
| NC_000007.12:g.127681861C>T | NCBI36 |
| NG_007450.1:g.18295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308868.5:c.313C>T MANE Select | ENSP00000312652.4:p.Arg105Trp | |
| ENST00000308868.4:c.313C>T | ENSP00000312652.4:p.Arg105Trp | |
| NM_000230.2:c.313C>T | NP_000221.1:p.Arg105Trp | |
| XM_005250340.3:c.310C>T | XP_005250397.1:p.Arg104Trp | |
| XM_005250340.5:c.310C>T | XP_005250397.1:p.Arg104Trp | |
| NM_000230.3:c.313C>T MANE Select | NP_000221.1:p.Arg105Trp |