Linked Data
ClinVar Variation Id:
238911
dbSNP Id:
rs772913999
ExAC:
7:21583201 C / A
gnomAD v2:
7-21583201-C-A
gnomAD v3:
7-21543583-C-A
gnomAD v4:
7-21543583-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21543583C>A , CM000669.2:g.21543583C>A | GRCh38 |
| NC_000007.13:g.21583201C>A , CM000669.1:g.21583201C>A | GRCh37 |
| NC_000007.12:g.21549726C>A | NCBI36 |
| NG_012886.2:g.5369C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.338C>A MANE Select | ENSP00000475939.1:p.Ala113Glu | |
| ENST00000328843.10:c.338C>A | ENSP00000330671.7:p.Ala113Glu | |
| ENST00000409508.7:c.338C>A | ENSP00000475939.1:p.Ala113Glu | |
| ENST00000607050.1:n.138C>A | ||
| ENST00000620169.4:c.338C>A | ENSP00000481693.1:p.Ala113Glu | |
| NM_001277115.1:c.338C>A | NP_001264044.1:p.Ala113Glu | |
| NM_001277115.2:c.338C>A MANE Select | NP_001264044.1:p.Ala113Glu |