Linked Data
ClinVar Variation Id:
1552729
ClinVar RCV Id:
RCV002185076
dbSNP Id:
rs368973217
gnomAD v4:
7-22945631-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22945631C>T , CM000669.2:g.22945631C>T | GRCh38 |
| NC_000007.13:g.22985250C>T , CM000669.1:g.22985250C>T | GRCh37 |
| NC_000007.12:g.22951775C>T | NCBI36 |
| NG_008392.1:g.73521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432176.7:c.1524G>A MANE Select | ENSP00000403396.2:p.Gln508= | |
| ENST00000440481.6:c.*560G>A | ENSP00000397168.2:n.*560G>A | |
| ENST00000465661.2:n.1182+14625G>A | ||
| ENST00000679789.1:c.*677G>A | ENSP00000506308.1:n.*677G>A | |
| ENST00000679826.1:c.1092G>A | ENSP00000505460.1:p.Gln364= | |
| ENST00000680721.1:n.1547G>A | ||
| ENST00000681079.1:c.*677G>A | ENSP00000506370.1:n.*677G>A | |
| ENST00000681237.1:c.*1180G>A | ENSP00000505270.1:n.*1180G>A | |
| ENST00000681402.1:c.*1234G>A | ENSP00000506692.1:n.*1234G>A | |
| ENST00000681766.1:c.1470G>A | ENSP00000505161.1:p.Gln490= | |
| ENST00000409923.5:c.*560G>A | ENSP00000386246.1:n.*560G>A | |
| ENST00000432176.6:c.1524G>A | ENSP00000403396.2:p.Gln508= | |
| ENST00000440481.5:c.1975G>A | ||
| NM_032581.3:c.1524G>A | NP_115970.2:p.Gln508= | |
| XM_005249894.3:c.*560G>A | XP_005249951.1:n.*560G>A | |
| XM_006715799.2:c.999G>A | XP_006715862.1:p.Gln333= | |
| XM_011515589.1:c.1524G>A | XP_011513891.1:p.Gln508= | |
| XM_011515590.1:c.991+14625G>A | XP_011513892.1:n.991+14625G>A | |
| NM_001363466.1:c.*560G>A | NP_001350395.1:n.*560G>A | |
| NM_001363467.1:c.*518G>A | NP_001350396.1:n.*518G>A | |
| XM_011515589.2:c.1524G>A | XP_011513891.1:p.Gln508= | |
| XM_011515590.2:c.991+14625G>A | XP_011513892.1:n.991+14625G>A | |
| NM_001363466.2:c.*560G>A | NP_001350395.1:n.*560G>A | |
| NM_001363467.2:c.*518G>A | NP_001350396.1:n.*518G>A | |
| NM_032581.4:c.1524G>A MANE Select | NP_115970.2:p.Gln508= |