Linked Data
ClinVar Variation Id:
556774
ClinVar RCV Id:
RCV000672826
dbSNP Id:
rs1131691837
gnomAD v4:
9-34647163-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647163T>C , CM000671.2:g.34647163T>C | GRCh38 |
| NC_000009.11:g.34647160T>C , CM000671.1:g.34647160T>C | GRCh37 |
| NC_000009.10:g.34637160T>C | NCBI36 |
| NG_009029.1:g.5526T>C | |
| NG_009029.2:g.5575T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.157T>C | ENSP00000509954.1:p.Trp53Arg | |
| ENST00000378842.8:c.157T>C MANE Select | ENSP00000368119.4:p.Trp53Arg | |
| ENST00000378842.7:c.157T>C | ENSP00000368119.3:p.Trp53Arg | |
| ENST00000450095.6:c.-46T>C | ENSP00000401956.2:n.-46T>C | |
| ENST00000465543.6:n.496T>C | ||
| ENST00000468099.2:n.197T>C | ||
| ENST00000472111.5:n.198T>C | ||
| ENST00000473506.6:c.157T>C | ENSP00000432839.2:p.Trp53Arg | |
| ENST00000473529.5:n.204T>C | ||
| ENST00000485531.1:n.150T>C | ||
| ENST00000487381.5:n.183T>C | ||
| ENST00000489643.6:n.187T>C | ||
| ENST00000554085.5:c.157T>C | ENSP00000450419.1:p.Trp53Arg | |
| ENST00000554139.5:n.210T>C | ||
| ENST00000554330.5:n.154T>C | ||
| ENST00000554550.5:c.157T>C | ENSP00000451435.1:p.Trp53Arg | |
| ENST00000554638.5:n.181T>C | ||
| ENST00000554897.5:c.157T>C | ENSP00000450942.1:p.Trp53Arg | |
| ENST00000554944.5:n.187T>C | ||
| ENST00000555020.5:n.187T>C | ||
| ENST00000555086.5:n.161T>C | ||
| ENST00000555214.5:n.166T>C | ||
| ENST00000556157.1:n.264T>C | ||
| ENST00000556244.1:c.41T>C | ||
| ENST00000556278.1:c.157T>C | ENSP00000451792.1:p.Trp53Arg | |
| ENST00000556403.5:n.170T>C | ||
| ENST00000556494.5:n.189T>C | ||
| ENST00000557541.5:n.350T>C | ||
| ENST00000557706.5:n.271T>C | ||
| NM_000155.3:c.157T>C | NP_000146.2:p.Trp53Arg | |
| NM_001258332.1:c.-46T>C | NP_001245261.1:n.-46T>C | |
| NM_000155.4:c.157T>C MANE Select | NP_000146.2:p.Trp53Arg | |
| NM_001258332.2:c.-46T>C | NP_001245261.1:n.-46T>C |