Linked Data
ClinVar Variation Id:
2895927
ClinVar RCV Id:
RCV003730651
dbSNP Id:
rs755417220
ExAC:
9:2645710 A / G
gnomAD v2:
9-2645710-A-G
gnomAD v4:
9-2645710-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2645710A>G , CM000671.2:g.2645710A>G | GRCh38 |
| NC_000009.11:g.2645710A>G , CM000671.1:g.2645710A>G | GRCh37 |
| NC_000009.10:g.2635710A>G | NCBI36 |
| NG_012741.1:g.28918A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382099.3:c.1007A>G | ||
| ENST00000382100.8:c.1449A>G MANE Select | ENSP00000371532.2:p.Leu483= | |
| ENST00000478776.2:n.894A>G | ||
| ENST00000679718.1:n.685A>G | ||
| ENST00000679750.1:n.865A>G | ||
| ENST00000679851.1:n.1633A>G | ||
| ENST00000680021.1:n.1649A>G | ||
| ENST00000680043.1:c.1001A>G | ||
| ENST00000680219.1:c.1016A>G | ||
| ENST00000680243.1:c.*1228A>G | ENSP00000505911.1:n.*1228A>G | |
| ENST00000680296.1:c.875A>G | ||
| ENST00000680332.1:n.532A>G | ||
| ENST00000680746.1:c.1326A>G | ENSP00000505030.1:p.Leu442= | |
| ENST00000680751.1:n.854A>G | ||
| ENST00000680891.1:c.*1241A>G | ENSP00000505167.1:n.*1241A>G | |
| ENST00000680975.1:n.834A>G | ||
| ENST00000681087.1:n.894A>G | ||
| ENST00000681306.1:c.1449A>G | ENSP00000506072.1:p.Leu483= | |
| ENST00000681618.1:c.1326A>G | ENSP00000505773.1:p.Leu442= | |
| ENST00000681644.1:c.*1121A>G | ENSP00000505180.1:n.*1121A>G | |
| ENST00000681806.1:c.1449A>G | ENSP00000505282.1:p.Leu483= | |
| ENST00000681942.1:c.997A>G | ||
| ENST00000382099.2:c.1449A>G | ENSP00000371531.2:p.Leu483= | |
| ENST00000382100.7:c.1449A>G | ENSP00000371532.2:p.Leu483= | |
| NM_001018056.1:c.1449A>G | NP_001018066.1:p.Leu483= | |
| NM_003383.3:c.1449A>G | NP_003374.3:p.Leu483= | |
| XM_011518029.1:c.1326A>G | XP_011516331.1:p.Leu442= | |
| NM_001018056.2:c.1449A>G | NP_001018066.1:p.Leu483= | |
| NM_001322225.1:c.1326A>G | NP_001309154.1:p.Leu442= | |
| NM_001322226.1:c.1326A>G | NP_001309155.1:p.Leu442= | |
| NM_003383.4:c.1449A>G | NP_003374.3:p.Leu483= | |
| XR_001746373.2:n.1853A>G | ||
| XR_002956805.1:n.1853A>G | ||
| NM_003383.5:c.1449A>G MANE Select | NP_003374.3:p.Leu483= | |
| NM_001018056.3:c.1449A>G | NP_001018066.1:p.Leu483= | |
| NM_001322225.2:c.1326A>G | NP_001309154.1:p.Leu442= | |
| NM_001322226.2:c.1326A>G | NP_001309155.1:p.Leu442= |