Linked Data
ClinVar Variation Id:
2174448
ClinVar RCV Id:
RCV002598903
MyVariant Identifiers:
chr7:g.23000907G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22961288G>A , CM000669.2:g.22961288G>A | GRCh38 |
| NC_000007.13:g.23000907G>A , CM000669.1:g.23000907G>A | GRCh37 |
| NC_000007.12:g.22967432G>A | NCBI36 |
| NG_008392.1:g.57864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432176.7:c.778C>T MANE Select | ENSP00000403396.2:p.Leu260= | |
| ENST00000440481.6:c.346C>T | ENSP00000397168.2:p.Leu116= | |
| ENST00000465661.2:n.969C>T | ||
| ENST00000679789.1:c.627-873C>T | ENSP00000506308.1:n.627-873C>T | |
| ENST00000679826.1:c.346C>T | ENSP00000505460.1:p.Leu116= | |
| ENST00000680721.1:n.801C>T | ||
| ENST00000681079.1:c.744-240C>T | ENSP00000506370.1:n.744-240C>T | |
| ENST00000681237.1:c.*434C>T | ENSP00000505270.1:n.*434C>T | |
| ENST00000681402.1:c.*488C>T | ENSP00000506692.1:n.*488C>T | |
| ENST00000681766.1:c.744-20C>T | ENSP00000505161.1:n.744-20C>T | |
| ENST00000409923.5:c.778C>T | ENSP00000386246.1:p.Leu260= | |
| ENST00000432176.6:c.778C>T | ENSP00000403396.2:p.Leu260= | |
| ENST00000440481.5:c.933C>T | ||
| ENST00000498833.1:n.29C>T | ||
| NM_032581.3:c.778C>T | NP_115970.2:p.Leu260= | |
| XM_005249894.3:c.778C>T | XP_005249951.1:p.Leu260= | |
| XM_005249895.1:c.778C>T | XP_005249952.1:p.Leu260= | |
| XM_006715799.2:c.253C>T | XP_006715862.1:p.Leu85= | |
| XM_011515589.1:c.778C>T | XP_011513891.1:p.Leu260= | |
| XM_011515590.1:c.778C>T | XP_011513892.1:p.Leu260= | |
| NM_001363466.1:c.778C>T | NP_001350395.1:p.Leu260= | |
| NM_001363467.1:c.778C>T | NP_001350396.1:p.Leu260= | |
| XM_011515589.2:c.778C>T | XP_011513891.1:p.Leu260= | |
| XM_011515590.2:c.778C>T | XP_011513892.1:p.Leu260= | |
| NM_001363466.2:c.778C>T | NP_001350395.1:p.Leu260= | |
| NM_001363467.2:c.778C>T | NP_001350396.1:p.Leu260= | |
| NM_032581.4:c.778C>T MANE Select | NP_115970.2:p.Leu260= |