Linked Data
ClinVar Variation Id:
536455
ClinVar RCV Id:
RCV000644909
dbSNP Id:
rs138053303
ExAC:
5:174156480 C / T
gnomAD v2:
5-174156480-C-T
gnomAD v3:
5-174729477-C-T
gnomAD v4:
5-174729477-C-T
COSMIC:
COSM3393454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174729477C>T , CM000667.2:g.174729477C>T | GRCh38 |
| NC_000005.9:g.174156480C>T , CM000667.1:g.174156480C>T | GRCh37 |
| NC_000005.8:g.174089086C>T | NCBI36 |
| NG_008124.1:g.9906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.698C>T MANE Select | ENSP00000239243.5:p.Ala233Val | |
| ENST00000239243.6:c.698C>T | ENSP00000239243.5:p.Ala233Val | |
| ENST00000507785.2:c.*322C>T | ENSP00000427425.1:n.*322C>T | |
| NM_002449.4:c.698C>T | NP_002440.2:p.Ala233Val | |
| NM_001363626.1:c.*322C>T | NP_001350555.1:n.*322C>T | |
| NM_002449.5:c.698C>T MANE Select | NP_002440.2:p.Ala233Val | |
| NM_001363626.2:c.*322C>T | NP_001350555.1:n.*322C>T |