Linked Data
ClinVar Variation Id:
18213
dbSNP Id:
rs80008208
ExAC:
4:74270111 C / T
gnomAD v2:
4-74270111-C-T
gnomAD v3:
4-73404394-C-T
gnomAD v4:
4-73404394-C-T
COSMIC:
COSM3605659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404394C>T , CM000666.2:g.73404394C>T | GRCh38 |
| NC_000004.11:g.74270111C>T , CM000666.1:g.74270111C>T | GRCh37 |
| NC_000004.10:g.74488975C>T | NCBI36 |
| NG_009291.1:g.5140C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.67C>T MANE Select | ENSP00000295897.4:p.Arg23Cys | |
| ENST00000295897.8:c.67C>T | ENSP00000295897.4:p.Arg23Cys | |
| ENST00000401494.7:c.67C>T | ENSP00000384695.3:p.Arg23Cys | |
| ENST00000415165.6:c.67C>T | ENSP00000401820.2:p.Arg23Cys | |
| ENST00000441319.5:c.73C>T | ENSP00000392541.1:p.Arg25Cys | |
| ENST00000476441.6:c.67C>T | ENSP00000423727.1:p.Arg23Cys | |
| ENST00000503124.5:c.-114C>T | ENSP00000421027.1:n.-114C>T | |
| ENST00000509063.5:c.67C>T | ENSP00000422784.1:p.Arg23Cys | |
| ENST00000510166.5:n.108C>T | ||
| ENST00000514786.1:n.48+58C>T | ||
| ENST00000515133.5:n.108C>T | ||
| ENST00000621085.4:c.67C>T | ENSP00000483421.1:p.Arg23Cys | |
| ENST00000621628.4:c.67C>T | ENSP00000480485.1:p.Arg23Cys | |
| NM_000477.5:c.67C>T | NP_000468.1:p.Arg23Cys | |
| NM_000477.6:c.67C>T | NP_000468.1:p.Arg23Cys | |
| NM_000477.7:c.67C>T MANE Select | NP_000468.1:p.Arg23Cys |