Linked Data
ClinVar Variation Id:
427232
dbSNP Id:
rs752599948
ExAC:
1:151001376 C / T
gnomAD v2:
1-151001376-C-T
gnomAD v4:
1-151028900-C-T
COSMIC:
COSM462922
PubMed:
PMID:28334956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151028900C>T , CM000663.2:g.151028900C>T | GRCh38 |
| NC_000001.10:g.151001376C>T , CM000663.1:g.151001376C>T | GRCh37 |
| NC_000001.9:g.149268000C>T | NCBI36 |
| NG_052875.1:g.25510C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271620.8:c.889C>T MANE Select | ENSP00000271620.3:p.Arg297Trp | |
| ENST00000650332.1:c.799C>T | ENSP00000497847.1:p.Arg267Trp | |
| ENST00000271620.7:c.889C>T | ENSP00000271620.3:p.Arg297Trp | |
| ENST00000368934.1:c.228+1573C>T | ENSP00000357930.1:n.228+1573C>T | |
| ENST00000368935.1:c.78+1573C>T | ENSP00000357931.1:n.78+1573C>T | |
| ENST00000368936.5:c.343C>T | ENSP00000357932.1:p.Arg115Trp | |
| ENST00000368937.5:c.228+1573C>T | ENSP00000357933.1:n.228+1573C>T | |
| ENST00000431193.5:c.228+1573C>T | ENSP00000392632.1:n.228+1573C>T | |
| ENST00000450884.5:c.343C>T | ENSP00000387696.1:p.Arg115Trp | |
| ENST00000462440.5:n.638C>T | ||
| ENST00000467771.5:n.1012C>T | ||
| ENST00000475722.5:n.711C>T | ||
| NM_001303229.1:c.343C>T | NP_001290158.1:p.Arg115Trp | |
| NM_001303242.1:c.774+1573C>T | NP_001290171.1:n.774+1573C>T | |
| NM_001303243.1:c.286C>T | NP_001290172.1:p.Arg96Trp | |
| NM_021222.2:c.889C>T | NP_067045.1:p.Arg297Trp | |
| NR_130130.1:n.535+1573C>T | ||
| NR_130131.1:n.584C>T | ||
| NR_130132.1:n.469+1573C>T | ||
| NR_130135.1:n.628+1573C>T | ||
| XM_005245393.3:c.799C>T | XP_005245450.1:p.Arg267Trp | |
| XM_005245397.3:c.343C>T | XP_005245454.1:p.Arg115Trp | |
| XM_011509830.1:c.730C>T | XP_011508132.1:p.Arg244Trp | |
| XM_011509831.1:c.286C>T | XP_011508133.1:p.Arg96Trp | |
| XM_011509832.1:c.343C>T | XP_011508134.1:p.Arg115Trp | |
| XM_005245393.5:c.799C>T | XP_005245450.1:p.Arg267Trp | |
| XM_011509832.2:c.343C>T | XP_011508134.1:p.Arg115Trp | |
| XM_017001955.2:c.684+1573C>T | XP_016857444.1:n.684+1573C>T | |
| XM_017001956.1:c.343C>T | XP_016857445.1:p.Arg115Trp | |
| XM_017001957.1:c.286C>T | XP_016857446.1:p.Arg96Trp | |
| NM_021222.3:c.889C>T MANE Select | NP_067045.1:p.Arg297Trp | |
| NM_001303229.2:c.343C>T | NP_001290158.1:p.Arg115Trp | |
| NM_001303242.2:c.774+1573C>T | NP_001290171.1:n.774+1573C>T | |
| NM_001303243.2:c.286C>T | NP_001290172.1:p.Arg96Trp | |
| NR_130130.2:n.477+1573C>T | ||
| NR_130131.2:n.526C>T | ||
| NR_130132.2:n.411+1573C>T | ||
| NR_130135.2:n.570+1573C>T |