Linked Data
ClinVar Variation Id:
4254
dbSNP Id:
rs72551322
ExAC:
2:219679439 C / T
gnomAD v2:
2-219679439-C-T
gnomAD v3:
2-218814716-C-T
gnomAD v4:
2-218814716-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814716C>T , CM000664.2:g.218814716C>T | GRCh38 |
| NC_000002.11:g.219679439C>T , CM000664.1:g.219679439C>T | GRCh37 |
| NC_000002.10:g.219387683C>T | NCBI36 |
| NG_007959.1:g.37968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1435C>T MANE Select | ENSP00000258415.4:p.Arg479Cys | |
| ENST00000258415.8:c.1435C>T | ENSP00000258415.4:p.Arg479Cys | |
| ENST00000494263.5:n.2147C>T | ||
| NM_000784.3:c.1435C>T | NP_000775.1:p.Arg479Cys | |
| XM_017003488.2:c.1015C>T | XP_016858977.1:p.Arg339Cys | |
| NM_000784.4:c.1435C>T MANE Select | NP_000775.1:p.Arg479Cys |