Linked Data
ClinVar Variation Id:
16995
ClinVar RCV Id:
RCV000018518
dbSNP Id:
rs121912970
ExAC:
6:121768090 C / T
gnomAD v4:
6-121446944-C-T
PubMed:
PMID:16816024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121446944C>T , CM000668.2:g.121446944C>T | GRCh38 |
| NC_000006.11:g.121768090C>T , CM000668.1:g.121768090C>T | GRCh37 |
| NC_000006.10:g.121809789C>T | NCBI36 |
| NG_008308.1:g.16346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.97C>T MANE Select | ENSP00000282561.3:p.Arg33Ter | |
| ENST00000647564.1:c.97C>T | ENSP00000497565.1:p.Arg33Ter | |
| ENST00000649003.1:c.97C>T | ENSP00000497283.1:p.Arg33Ter | |
| ENST00000650427.1:c.97C>T | ENSP00000497367.1:p.Arg33Ter | |
| ENST00000282561.3:c.97C>T | ENSP00000282561.3:p.Arg33Ter | |
| NM_000165.4:c.97C>T | NP_000156.1:p.Arg33Ter | |
| NM_000165.5:c.97C>T MANE Select | NP_000156.1:p.Arg33Ter |