Linked Data
ClinVar Variation Id:
16761
ClinVar RCV Id:
RCV000018246
dbSNP Id:
rs121913033
gnomAD v2:
7-107420134-C-T
gnomAD v4:
7-107779689-C-T
PubMed:
PMID:12442266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107779689C>T , CM000669.2:g.107779689C>T | GRCh38 |
| NC_000007.13:g.107420134C>T , CM000669.1:g.107420134C>T | GRCh37 |
| NC_000007.12:g.107207370C>T | NCBI36 |
| NG_008046.1:g.28545G>A , LRG_683:g.28545G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340010.10:c.1386G>A MANE Select | ENSP00000345873.5:p.Trp462Ter | |
| ENST00000340010.9:c.1386G>A | ENSP00000345873.5:p.Trp462Ter | |
| ENST00000379083.7:c.*1177G>A | ENSP00000368375.3:n.*1177G>A | |
| NM_000111.2:c.1386G>A , LRG_683t1:c.1386G>A | NP_000102.1:p.Trp462Ter | |
| XM_011515867.1:c.1386G>A | XP_011514169.1:p.Trp462Ter | |
| NM_000111.3:c.1386G>A MANE Select | NP_000102.1:p.Trp462Ter |