Linked Data
ClinVar Variation Id:
55971
dbSNP Id:
rs386833453
ExAC:
7:107420133 G / A
gnomAD v2:
7-107420133-G-A
gnomAD v3:
7-107779688-G-A
gnomAD v4:
7-107779688-G-A
COSMIC:
COSM4969699
PubMed:
PMID:21394828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107779688G>A , CM000669.2:g.107779688G>A | GRCh38 |
| NC_000007.13:g.107420133G>A , CM000669.1:g.107420133G>A | GRCh37 |
| NC_000007.12:g.107207369G>A | NCBI36 |
| NG_008046.1:g.28546C>T , LRG_683:g.28546C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1387C>T MANE Select | ENSP00000345873.5:p.Arg463Ter | |
| ENST00000340010.9:c.1387C>T | ENSP00000345873.5:p.Arg463Ter | |
| ENST00000379083.7:c.*1178C>T | ENSP00000368375.3:n.*1178C>T | |
| NM_000111.2:c.1387C>T , LRG_683t1:c.1387C>T | NP_000102.1:p.Arg463Ter | |
| XM_011515867.1:c.1387C>T | XP_011514169.1:p.Arg463Ter | |
| NM_000111.3:c.1387C>T MANE Select | NP_000102.1:p.Arg463Ter |