Linked Data
ClinVar Variation Id:
161792
ClinVar RCV Id:
RCV000149328
dbSNP Id:
rs193920840
ExAC:
5:156288 C / T
gnomAD v2:
5-156288-C-T
gnomAD v3:
5-156173-C-T
gnomAD v4:
5-156173-C-T
COSMIC:
COSM1179718
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156173C>T , CM000667.2:g.156173C>T | GRCh38 |
| NC_000005.9:g.156288C>T , CM000667.1:g.156288C>T | GRCh37 |
| NC_000005.8:g.209288C>T | NCBI36 |
| NG_054915.1:g.107159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637938.2:c.2311C>T MANE Select | ENSP00000490806.1:p.Arg771Trp | |
| ENST00000283426.11:c.1243C>T | ENSP00000283426.6:p.Arg415Trp | |
| ENST00000637938.1:c.2311C>T | ENSP00000490806.1:p.Arg771Trp | |
| ENST00000283426.10:c.1243C>T | ENSP00000283426.6:p.Arg415Trp | |
| ENST00000502646.1:c.985C>T | ENSP00000422493.1:p.Arg329Trp | |
| NM_052909.3:c.1243C>T | NP_443141.3:p.Arg415Trp | |
| XM_006714446.2:c.2311C>T | XP_006714509.1:p.Arg771Trp | |
| XM_011513968.1:c.2311C>T | XP_011512270.1:p.Arg771Trp | |
| XM_011513969.1:c.2188C>T | XP_011512271.1:p.Arg730Trp | |
| XM_011513970.1:c.1852C>T | XP_011512272.1:p.Arg618Trp | |
| XM_011513971.1:c.1852C>T | XP_011512273.1:p.Arg618Trp | |
| XM_011513972.1:c.2311C>T | XP_011512274.1:p.Arg771Trp | |
| XM_011513973.1:c.2311C>T | XP_011512275.1:p.Arg771Trp | |
| NM_052909.4:c.2311C>T | NP_443141.4:p.Arg771Trp | |
| XM_011513968.3:c.2311C>T | XP_011512270.1:p.Arg771Trp | |
| XM_011513969.3:c.2188C>T | XP_011512271.1:p.Arg730Trp | |
| XM_011513970.2:c.1852C>T | XP_011512272.1:p.Arg618Trp | |
| XM_017009112.2:c.2311C>T | XP_016864601.1:p.Arg771Trp | |
| XR_001742015.2:n.2433C>T | ||
| NM_052909.5:c.2311C>T MANE Select | NP_443141.4:p.Arg771Trp |