Linked Data
ClinVar Variation Id:
156310
ClinVar RCV Id:
RCV000144394
dbSNP Id:
rs78575701
ExAC:
4:74283258 C / T
gnomAD v2:
4-74283258-C-T
gnomAD v3:
4-73417541-C-T
gnomAD v4:
4-73417541-C-T
COSMIC:
COSM3605681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73417541C>T , CM000666.2:g.73417541C>T | GRCh38 |
| NC_000004.11:g.74283258C>T , CM000666.1:g.74283258C>T | GRCh37 |
| NC_000004.10:g.74502122C>T | NCBI36 |
| NG_009291.1:g.18287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1300C>T MANE Select | ENSP00000295897.4:p.Arg434Cys | |
| ENST00000295897.8:c.1300C>T | ENSP00000295897.4:p.Arg434Cys | |
| ENST00000401494.7:c.955C>T | ENSP00000384695.3:p.Arg319Cys | |
| ENST00000415165.6:c.724C>T | ENSP00000401820.2:p.Arg242Cys | |
| ENST00000476441.6:c.*579C>T | ENSP00000423727.1:n.*579C>T | |
| ENST00000484992.1:n.620C>T | ||
| ENST00000503124.5:c.850C>T | ENSP00000421027.1:p.Arg284Cys | |
| ENST00000505649.5:n.976-547C>T | ||
| ENST00000509063.5:c.1300C>T | ENSP00000422784.1:p.Arg434Cys | |
| ENST00000511370.1:c.833C>T | ||
| ENST00000621085.4:c.661C>T | ENSP00000483421.1:p.Arg221Cys | |
| ENST00000621628.4:c.661C>T | ENSP00000480485.1:p.Arg221Cys | |
| NM_000477.5:c.1300C>T | NP_000468.1:p.Arg434Cys | |
| NM_000477.6:c.1300C>T | NP_000468.1:p.Arg434Cys | |
| NM_000477.7:c.1300C>T MANE Select | NP_000468.1:p.Arg434Cys |