Linked Data
ClinVar Variation Id:
2968317
ClinVar RCV Id:
RCV003821443
dbSNP Id:
rs1393291914
gnomAD v2:
6-100060929-T-C
gnomAD v4:
6-99613053-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99613053T>C , CM000668.2:g.99613053T>C | GRCh38 |
| NC_000006.11:g.100060929T>C , CM000668.1:g.100060929T>C | GRCh37 |
| NC_000006.10:g.100167650T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369215.5:c.418T>C MANE Select | ENSP00000358217.5:p.Trp140Arg | |
| ENST00000369214.2:c.*80T>C | ENSP00000358216.2:n.*80T>C | |
| ENST00000369215.4:c.418T>C | ENSP00000358217.4:p.Trp140Arg | |
| NM_021620.3:c.418T>C | NP_067633.2:p.Trp140Arg | |
| NM_021620.4:c.418T>C MANE Select | NP_067633.2:p.Trp140Arg |