Linked Data
ClinVar Variation Id:
55997
dbSNP Id:
rs386833479
ExAC:
7:107432299 C / T
gnomAD v2:
7-107432299-C-T
gnomAD v3:
7-107791854-C-T
gnomAD v4:
7-107791854-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107791854C>T , CM000669.2:g.107791854C>T | GRCh38 |
| NC_000007.13:g.107432299C>T , CM000669.1:g.107432299C>T | GRCh37 |
| NC_000007.12:g.107219535C>T | NCBI36 |
| NG_008046.1:g.16380G>A , LRG_683:g.16380G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.358G>A MANE Select | ENSP00000345873.5:p.Gly120Ser | |
| ENST00000340010.9:c.358G>A | ENSP00000345873.5:p.Gly120Ser | |
| ENST00000379083.7:c.*149G>A | ENSP00000368375.3:n.*149G>A | |
| ENST00000453332.1:c.358G>A | ENSP00000395955.1:p.Gly120Ser | |
| NM_000111.2:c.358G>A , LRG_683t1:c.358G>A | NP_000102.1:p.Gly120Ser | |
| XM_011515867.1:c.358G>A | XP_011514169.1:p.Gly120Ser | |
| NM_000111.3:c.358G>A MANE Select | NP_000102.1:p.Gly120Ser |