Linked Data
ClinVar Variation Id:
376626
ClinVar RCV Id:
RCV000417803
RCV000417874
RCV000423644
RCV000425237
RCV000426379
RCV000430828
RCV000428580
RCV000431096
RCV000433855
RCV000436180
RCV000434893
RCV000435981
RCV000440656
RCV000441816
RCV000442199
RCV000444903
RCV000468362
RCV000562533
RCV001253548
RCV004017609
dbSNP Id:
rs747342068
ExAC:
17:7578536 T / C
gnomAD v2:
17-7578536-T-C
gnomAD v4:
17-7675218-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7675218T>C , CM000679.2:g.7675218T>C | GRCh38 |
| NC_000017.10:g.7578536T>C , CM000679.1:g.7578536T>C | GRCh37 |
| NC_000017.9:g.7519261T>C | NCBI36 |
| NG_017013.2:g.17333A>G , LRG_321:g.17333A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503591.2:c.394A>G | ENSP00000426252.2:p.Lys132Glu | |
| ENST00000508793.6:c.394A>G | ENSP00000424104.2:p.Lys132Glu | |
| ENST00000509690.6:c.-3A>G | ENSP00000425104.2:n.-3A>G | |
| ENST00000514944.6:c.115A>G | ENSP00000423862.2:p.Lys39Glu | |
| ENST00000604348.6:c.376-3A>G | ENSP00000473895.2:n.376-3A>G | |
| ENST00000269305.9:c.394A>G MANE Select | ENSP00000269305.4:p.Lys132Glu | |
| ENST00000269305.8:c.394A>G | ENSP00000269305.4:p.Lys132Glu | |
| ENST00000359597.8:c.394A>G | ENSP00000352610.4:p.Lys132Glu | |
| ENST00000413465.6:c.394A>G | ENSP00000410739.2:p.Lys132Glu | |
| ENST00000420246.6:c.394A>G | ENSP00000391127.2:p.Lys132Glu | |
| ENST00000445888.6:c.394A>G | ENSP00000391478.2:p.Lys132Glu | |
| ENST00000455263.6:c.394A>G | ENSP00000398846.2:p.Lys132Glu | |
| ENST00000504290.5:c.-3A>G | ENSP00000484409.1:n.-3A>G | |
| ENST00000504937.5:c.-3A>G | ENSP00000481179.1:n.-3A>G | |
| ENST00000505014.5:n.650A>G | ||
| ENST00000508793.5:c.394A>G | ENSP00000424104.1:p.Lys132Glu | |
| ENST00000509690.5:c.-3A>G | ENSP00000425104.1:n.-3A>G | |
| ENST00000510385.5:c.-3A>G | ENSP00000478499.1:n.-3A>G | |
| ENST00000514944.5:c.115A>G | ENSP00000423862.1:p.Lys39Glu | |
| ENST00000604348.5:c.376-3A>G | ENSP00000473895.1:n.376-3A>G | |
| ENST00000610292.4:c.277A>G | ENSP00000478219.1:p.Lys93Glu | |
| ENST00000610538.4:c.277A>G | ENSP00000480868.1:p.Lys93Glu | |
| ENST00000610623.4:c.-84A>G | ENSP00000477531.1:n.-84A>G | |
| ENST00000615910.4:c.361A>G | ENSP00000482903.1:p.Lys121Glu | |
| ENST00000617185.4:c.394A>G | ENSP00000482258.1:p.Lys132Glu | |
| ENST00000618944.4:c.-84A>G | ENSP00000481401.1:n.-84A>G | |
| ENST00000619186.4:c.-84A>G | ENSP00000484375.1:n.-84A>G | |
| ENST00000619485.4:c.277A>G | ENSP00000482537.1:p.Lys93Glu | |
| ENST00000620739.4:c.277A>G | ENSP00000481638.1:p.Lys93Glu | |
| ENST00000622645.4:c.277A>G | ENSP00000482222.1:p.Lys93Glu | |
| ENST00000635293.1:c.277A>G | ENSP00000488924.1:p.Lys93Glu | |
| NM_000546.5:c.394A>G , LRG_321t1:c.394A>G | NP_000537.3:p.Lys132Glu | |
| NM_001126112.2:c.394A>G , LRG_321t2:c.394A>G | NP_001119584.1:p.Lys132Glu | |
| NM_001126113.2:c.394A>G , LRG_321t4:c.394A>G | NP_001119585.1:p.Lys132Glu | |
| NM_001126114.2:c.394A>G , LRG_321t3:c.394A>G | NP_001119586.1:p.Lys132Glu | |
| NM_001126115.1:c.-3A>G , LRG_321t5:c.-3A>G | NP_001119587.1:n.-3A>G | |
| NM_001126116.1:c.-3A>G , LRG_321t6:c.-3A>G | NP_001119588.1:n.-3A>G | |
| NM_001126117.1:c.-3A>G , LRG_321t7:c.-3A>G | NP_001119589.1:n.-3A>G | |
| NM_001126118.1:c.277A>G , LRG_321t8:c.277A>G | NP_001119590.1:p.Lys93Glu | |
| NM_001276695.1:c.277A>G | NP_001263624.1:p.Lys93Glu | |
| NM_001276696.1:c.277A>G | NP_001263625.1:p.Lys93Glu | |
| NM_001276697.1:c.-84A>G | NP_001263626.1:n.-84A>G | |
| NM_001276698.1:c.-84A>G | NP_001263627.1:n.-84A>G | |
| NM_001276699.1:c.-84A>G | NP_001263628.1:n.-84A>G | |
| NM_001276760.1:c.277A>G | NP_001263689.1:p.Lys93Glu | |
| NM_001276761.1:c.277A>G | NP_001263690.1:p.Lys93Glu | |
| NM_001276695.2:c.277A>G | NP_001263624.1:p.Lys93Glu | |
| NM_001276696.2:c.277A>G | NP_001263625.1:p.Lys93Glu | |
| NM_001276697.2:c.-84A>G | NP_001263626.1:n.-84A>G | |
| NM_001276698.2:c.-84A>G | NP_001263627.1:n.-84A>G | |
| NM_001276699.2:c.-84A>G | NP_001263628.1:n.-84A>G | |
| NM_001276760.2:c.277A>G | NP_001263689.1:p.Lys93Glu | |
| NM_001276761.2:c.277A>G | NP_001263690.1:p.Lys93Glu | |
| NM_000546.6:c.394A>G MANE Select | NP_000537.3:p.Lys132Glu | |
| NM_001126112.3:c.394A>G | NP_001119584.1:p.Lys132Glu | |
| NM_001126113.3:c.394A>G | NP_001119585.1:p.Lys132Glu | |
| NM_001126114.3:c.394A>G | NP_001119586.1:p.Lys132Glu | |
| NM_001126115.2:c.-3A>G | NP_001119587.1:n.-3A>G | |
| NM_001126116.2:c.-3A>G | NP_001119588.1:n.-3A>G | |
| NM_001126117.2:c.-3A>G | NP_001119589.1:n.-3A>G | |
| NM_001126118.2:c.277A>G | NP_001119590.1:p.Lys93Glu | |
| NM_001276695.3:c.277A>G | NP_001263624.1:p.Lys93Glu | |
| NM_001276696.3:c.277A>G | NP_001263625.1:p.Lys93Glu | |
| NM_001276697.3:c.-84A>G | NP_001263626.1:n.-84A>G | |
| NM_001276698.3:c.-84A>G | NP_001263627.1:n.-84A>G | |
| NM_001276699.3:c.-84A>G | NP_001263628.1:n.-84A>G | |
| NM_001276760.3:c.277A>G | NP_001263689.1:p.Lys93Glu | |
| NM_001276761.3:c.277A>G | NP_001263690.1:p.Lys93Glu |