Linked Data
ClinVar Variation Id:
282964
dbSNP Id:
rs780042783
ExAC:
7:21609712 A / C
gnomAD v2:
7-21609712-A-C
gnomAD v3:
7-21570094-A-C
gnomAD v4:
7-21570094-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21570094A>C , CM000669.2:g.21570094A>C | GRCh38 |
| NC_000007.13:g.21609712A>C , CM000669.1:g.21609712A>C | GRCh37 |
| NC_000007.12:g.21576237A>C | NCBI36 |
| NG_012886.2:g.31880A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.1220A>C MANE Select | ENSP00000475939.1:p.Asp407Ala | |
| ENST00000328843.10:c.1220A>C | ENSP00000330671.7:p.Asp407Ala | |
| ENST00000409508.7:c.1220A>C | ENSP00000475939.1:p.Asp407Ala | |
| ENST00000496218.1:n.106A>C | ||
| ENST00000620169.4:c.1220A>C | ENSP00000481693.1:p.Asp407Ala | |
| NM_001277115.1:c.1220A>C | NP_001264044.1:p.Asp407Ala | |
| XR_927090.1:n.563+3232T>G | ||
| XR_001745114.1:n.2793+3232T>G | ||
| NM_001277115.2:c.1220A>C MANE Select | NP_001264044.1:p.Asp407Ala |