Linked Data
ClinVar Variation Id:
5137
ClinVar RCV Id:
RCV000005444
dbSNP Id:
rs121908374
ExAC:
19:7594059 C / T
gnomAD v2:
19-7594059-C-T
gnomAD v3:
19-7529173-C-T
gnomAD v4:
19-7529173-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529173C>T , CM000681.2:g.7529173C>T | GRCh38 |
| NC_000019.9:g.7594059C>T , CM000681.1:g.7594059C>T | GRCh37 |
| NC_000019.8:g.7500059C>T | NCBI36 |
| NG_013374.1:g.22C>T | |
| NG_015806.1:g.11564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1207C>T MANE Select | ENSP00000264079.5:p.Arg403Cys | |
| ENST00000264079.10:c.1207C>T | ENSP00000264079.5:p.Arg403Cys | |
| ENST00000394321.9:n.1522C>T | ||
| ENST00000594692.1:n.203C>T | ||
| ENST00000595860.5:n.390C>T | ||
| ENST00000599334.1:c.84C>T | ||
| NM_020533.2:c.1207C>T | NP_065394.1:p.Arg403Cys | |
| NM_020533.3:c.1207C>T MANE Select | NP_065394.1:p.Arg403Cys |