Linked Data
ClinVar Variation Id:
13781
ClinVar RCV Id:
RCV000014791
dbSNP Id:
rs121917720
gnomAD v4:
14-36663031-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663031C>T , CM000676.2:g.36663031C>T | GRCh38 |
| NC_000014.8:g.37132236C>T , CM000676.1:g.37132236C>T | GRCh37 |
| NC_000014.7:g.36201987C>T | NCBI36 |
| NG_013357.1:g.10464C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361487.7:c.139C>T MANE Select | ENSP00000355245.6:p.Arg47Trp | |
| ENST00000555639.2:c.139C>T | ENSP00000501203.1:p.Arg47Trp | |
| ENST00000361487.6:c.139C>T | ENSP00000355245.6:p.Arg47Trp | |
| ENST00000402703.6:c.139C>T | ENSP00000384817.2:p.Arg47Trp | |
| ENST00000554201.1:c.-423C>T | ENSP00000450434.1:n.-423C>T | |
| ENST00000555639.1:n.441C>T | ||
| NM_006194.3:c.139C>T | NP_006185.1:p.Arg47Trp | |
| NM_001372076.1:c.139C>T MANE Select | NP_001359005.1:p.Arg47Trp | |
| NM_006194.4:c.139C>T | NP_006185.1:p.Arg47Trp |