Linked Data
ClinVar Variation Id:
426832
dbSNP Id:
rs148352905
ExAC:
11:67374518 C / T
gnomAD v2:
11-67374518-C-T
gnomAD v3:
11-67607047-C-T
gnomAD v4:
11-67607047-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67607047C>T , CM000673.2:g.67607047C>T | GRCh38 |
| NC_000011.9:g.67374518C>T , CM000673.1:g.67374518C>T | GRCh37 |
| NC_000011.8:g.67131094C>T | NCBI36 |
| NG_013353.1:g.5196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.43C>T MANE Select | ENSP00000322450.6:p.Arg15Trp | |
| ENST00000647561.1:c.43C>T | ENSP00000497587.1:p.Arg15Trp | |
| ENST00000322776.10:c.43C>T | ENSP00000322450.6:p.Arg15Trp | |
| ENST00000415352.6:c.43C>T | ENSP00000395368.2:p.Arg15Trp | |
| ENST00000524838.5:n.104C>T | ||
| ENST00000524876.5:n.104C>T | ||
| ENST00000525086.5:n.90C>T | ||
| ENST00000526138.5:n.87C>T | ||
| ENST00000528328.1:c.-136C>T | ENSP00000436906.1:n.-136C>T | |
| ENST00000528548.5:n.94C>T | ||
| ENST00000529867.5:c.43C>T | ENSP00000434438.1:p.Arg15Trp | |
| ENST00000529927.5:c.43C>T | ENSP00000436766.1:p.Arg15Trp | |
| ENST00000530014.5:n.90C>T | ||
| ENST00000530103.5:c.43C>T | ENSP00000434575.1:p.Arg15Trp | |
| ENST00000530638.1:c.-63C>T | ENSP00000436936.1:n.-63C>T | |
| ENST00000532244.5:c.-257C>T | ENSP00000435202.1:n.-257C>T | |
| ENST00000532260.1:n.90C>T | ||
| ENST00000532303.5:c.-178C>T | ENSP00000432015.1:n.-178C>T | |
| ENST00000532343.5:c.-230C>T | ENSP00000431751.1:n.-230C>T | |
| ENST00000533075.5:c.43C>T | ENSP00000437267.1:p.Arg15Trp | |
| ENST00000534139.5:n.90C>T | ||
| NM_001166102.1:c.43C>T | NP_001159574.1:p.Arg15Trp | |
| NM_007103.3:c.43C>T | NP_009034.2:p.Arg15Trp | |
| NM_001166102.2:c.43C>T | NP_001159574.1:p.Arg15Trp | |
| NM_007103.4:c.43C>T MANE Select | NP_009034.2:p.Arg15Trp |