Linked Data
ClinVar Variation Id:
1528882
ClinVar RCV Id:
RCV002079829
dbSNP Id:
rs201039474
gnomAD v2:
7-23000859-A-G
gnomAD v3:
7-22961240-A-G
gnomAD v4:
7-22961240-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22961240A>G , CM000669.2:g.22961240A>G | GRCh38 |
| NC_000007.13:g.23000859A>G , CM000669.1:g.23000859A>G | GRCh37 |
| NC_000007.12:g.22967384A>G | NCBI36 |
| NG_008392.1:g.57912T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432176.7:c.826T>C MANE Select | ENSP00000403396.2:p.Leu276= | |
| ENST00000440481.6:c.394T>C | ENSP00000397168.2:p.Leu132= | |
| ENST00000465661.2:n.1017T>C | ||
| ENST00000679789.1:c.627-825T>C | ENSP00000506308.1:n.627-825T>C | |
| ENST00000679826.1:c.394T>C | ENSP00000505460.1:p.Leu132= | |
| ENST00000680721.1:n.849T>C | ||
| ENST00000681079.1:c.744-192T>C | ENSP00000506370.1:n.744-192T>C | |
| ENST00000681237.1:c.*482T>C | ENSP00000505270.1:n.*482T>C | |
| ENST00000681402.1:c.*536T>C | ENSP00000506692.1:n.*536T>C | |
| ENST00000681766.1:c.772T>C | ENSP00000505161.1:p.Leu258= | |
| ENST00000409923.5:c.826T>C | ENSP00000386246.1:p.Leu276= | |
| ENST00000432176.6:c.826T>C | ENSP00000403396.2:p.Leu276= | |
| ENST00000440481.5:c.981T>C | ||
| ENST00000498833.1:n.77T>C | ||
| NM_032581.3:c.826T>C | NP_115970.2:p.Leu276= | |
| XM_005249894.3:c.826T>C | XP_005249951.1:p.Leu276= | |
| XM_005249895.1:c.826T>C | XP_005249952.1:p.Leu276= | |
| XM_006715799.2:c.301T>C | XP_006715862.1:p.Leu101= | |
| XM_011515589.1:c.826T>C | XP_011513891.1:p.Leu276= | |
| XM_011515590.1:c.826T>C | XP_011513892.1:p.Leu276= | |
| NM_001363466.1:c.826T>C | NP_001350395.1:p.Leu276= | |
| NM_001363467.1:c.826T>C | NP_001350396.1:p.Leu276= | |
| XM_011515589.2:c.826T>C | XP_011513891.1:p.Leu276= | |
| XM_011515590.2:c.826T>C | XP_011513892.1:p.Leu276= | |
| NM_001363466.2:c.826T>C | NP_001350395.1:p.Leu276= | |
| NM_001363467.2:c.826T>C | NP_001350396.1:p.Leu276= | |
| NM_032581.4:c.826T>C MANE Select | NP_115970.2:p.Leu276= |