Linked Data
dbSNP Id:
rs558977371
gnomAD v4:
7-152649131-C-A
MyVariant Identifiers:
chr7:g.152346216C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152649131C>A , CM000669.2:g.152649131C>A | GRCh38 |
| NC_000007.13:g.152346216C>A , CM000669.1:g.152346216C>A | GRCh37 |
| NC_000007.12:g.151977149C>A | NCBI36 |
| NG_027988.1:g.32035G>T | |
| NG_027988.2:g.32035G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.186G>T | ENSP00000513758.1:p.Val62= | |
| ENST00000359321.2:c.354G>T MANE Select | ENSP00000352271.1:p.Val118= | |
| ENST00000359321.1:c.354G>T | ENSP00000352271.1:p.Val118= | |
| ENST00000495707.1:n.376G>T | ||
| NM_005431.1:c.354G>T | NP_005422.1:p.Val118= | |
| NM_005431.2:c.354G>T MANE Select | NP_005422.1:p.Val118= |