Linked Data
ClinVar Variation Id:
488979
ClinVar RCV Id:
RCV000579199
dbSNP Id:
rs1200646566
gnomAD v3:
7-152648845-G-A
gnomAD v4:
7-152648845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648845G>A , CM000669.2:g.152648845G>A | GRCh38 |
| NC_000007.13:g.152345930G>A , CM000669.1:g.152345930G>A | GRCh37 |
| NC_000007.12:g.151976863G>A | NCBI36 |
| NG_027988.1:g.32321C>T | |
| NG_027988.2:g.32321C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.472C>T | ENSP00000513758.1:p.Arg158Ter | |
| ENST00000359321.2:c.640C>T MANE Select | ENSP00000352271.1:p.Arg214Ter | |
| ENST00000359321.1:c.640C>T | ENSP00000352271.1:p.Arg214Ter | |
| ENST00000495707.1:n.662C>T | ||
| NM_005431.1:c.640C>T | NP_005422.1:p.Arg214Ter | |
| NM_005431.2:c.640C>T MANE Select | NP_005422.1:p.Arg214Ter |