Linked Data
ClinVar Variation Id:
904660
ClinVar RCV Id:
RCV001152701
dbSNP Id:
rs369763404
ExAC:
4:74270032 C / T
gnomAD v2:
4-74270032-C-T
gnomAD v3:
4-73404315-C-T
gnomAD v4:
4-73404315-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404315C>T , CM000666.2:g.73404315C>T | GRCh38 |
| NC_000004.11:g.74270032C>T , CM000666.1:g.74270032C>T | GRCh37 |
| NC_000004.10:g.74488896C>T | NCBI36 |
| NG_009291.1:g.5061C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.-13C>T MANE Select | ENSP00000295897.4:n.-13C>T | |
| ENST00000295897.8:c.-13C>T | ENSP00000295897.4:n.-13C>T | |
| ENST00000401494.7:c.-13C>T | ENSP00000384695.3:n.-13C>T | |
| ENST00000415165.6:c.-13C>T | ENSP00000401820.2:n.-13C>T | |
| ENST00000441319.5:c.48-54C>T | ENSP00000392541.1:n.48-54C>T | |
| ENST00000476441.6:c.-13C>T | ENSP00000423727.1:n.-13C>T | |
| ENST00000503124.5:c.-193C>T | ENSP00000421027.1:n.-193C>T | |
| ENST00000509063.5:c.-13C>T | ENSP00000422784.1:n.-13C>T | |
| ENST00000510166.5:n.29C>T | ||
| ENST00000514786.1:n.27C>T | ||
| ENST00000515133.5:n.29C>T | ||
| ENST00000621085.4:c.-13C>T | ENSP00000483421.1:n.-13C>T | |
| ENST00000621628.4:c.-13C>T | ENSP00000480485.1:n.-13C>T | |
| NM_000477.5:c.-13C>T | NP_000468.1:n.-13C>T | |
| NM_000477.6:c.-13C>T | NP_000468.1:n.-13C>T | |
| NM_000477.7:c.-13C>T MANE Select | NP_000468.1:n.-13C>T |