Linked Data
ClinVar Variation Id:
2833006
ClinVar RCV Id:
RCV003602119
dbSNP Id:
rs1784012932
gnomAD v4:
7-22945888-A-G
MyVariant Identifiers:
chr7:g.22985507A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22945888A>G , CM000669.2:g.22945888A>G | GRCh38 |
| NC_000007.13:g.22985507A>G , CM000669.1:g.22985507A>G | GRCh37 |
| NC_000007.12:g.22952032A>G | NCBI36 |
| NG_008392.1:g.73264T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432176.7:c.1267T>C MANE Select | ENSP00000403396.2:p.Leu423= | |
| ENST00000440481.6:c.*303T>C | ENSP00000397168.2:n.*303T>C | |
| ENST00000465661.2:n.1182+14368T>C | ||
| ENST00000679789.1:c.*420T>C | ENSP00000506308.1:n.*420T>C | |
| ENST00000679826.1:c.835T>C | ENSP00000505460.1:p.Leu279= | |
| ENST00000680721.1:n.1290T>C | ||
| ENST00000681079.1:c.*420T>C | ENSP00000506370.1:n.*420T>C | |
| ENST00000681237.1:c.*923T>C | ENSP00000505270.1:n.*923T>C | |
| ENST00000681402.1:c.*977T>C | ENSP00000506692.1:n.*977T>C | |
| ENST00000681766.1:c.1213T>C | ENSP00000505161.1:p.Leu405= | |
| ENST00000409923.5:c.*303T>C | ENSP00000386246.1:n.*303T>C | |
| ENST00000432176.6:c.1267T>C | ENSP00000403396.2:p.Leu423= | |
| ENST00000440481.5:c.1718T>C | ||
| NM_032581.3:c.1267T>C | NP_115970.2:p.Leu423= | |
| XM_005249894.3:c.*303T>C | XP_005249951.1:n.*303T>C | |
| XM_006715799.2:c.742T>C | XP_006715862.1:p.Leu248= | |
| XM_011515589.1:c.1267T>C | XP_011513891.1:p.Leu423= | |
| XM_011515590.1:c.991+14368T>C | XP_011513892.1:n.991+14368T>C | |
| NM_001363466.1:c.*303T>C | NP_001350395.1:n.*303T>C | |
| NM_001363467.1:c.*261T>C | NP_001350396.1:n.*261T>C | |
| XM_011515589.2:c.1267T>C | XP_011513891.1:p.Leu423= | |
| XM_011515590.2:c.991+14368T>C | XP_011513892.1:n.991+14368T>C | |
| NM_001363466.2:c.*303T>C | NP_001350395.1:n.*303T>C | |
| NM_001363467.2:c.*261T>C | NP_001350396.1:n.*261T>C | |
| NM_032581.4:c.1267T>C MANE Select | NP_115970.2:p.Leu423= |