Linked Data
ClinVar Variation Id:
5647
dbSNP Id:
rs121908526
ExAC:
2:241814542 C / T
gnomAD v2:
2-241814542-C-T
gnomAD v3:
2-240875125-C-T
gnomAD v4:
2-240875125-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875125C>T , CM000664.2:g.240875125C>T | GRCh38 |
| NC_000002.11:g.241814542C>T , CM000664.1:g.241814542C>T | GRCh37 |
| NC_000002.10:g.241463215C>T | NCBI36 |
| NG_008005.1:g.11381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.697C>T MANE Select | ENSP00000302620.3:p.Arg233Cys | |
| ENST00000307503.3:c.697C>T | ENSP00000302620.3:p.Arg233Cys | |
| ENST00000476698.1:n.349C>T | ||
| NM_000030.2:c.697C>T | NP_000021.1:p.Arg233Cys | |
| NM_000030.3:c.697C>T MANE Select | NP_000021.1:p.Arg233Cys |