Linked Data
ClinVar Variation Id:
376627
ClinVar RCV Id:
RCV000420694
RCV000419605
RCV000423393
RCV000422403
RCV000424547
RCV000425633
RCV000427017
RCV000430299
RCV000433243
RCV000433123
RCV000435461
RCV000437675
RCV000437910
RCV000443063
RCV000442106
RCV000442467
RCV004022225
RCV003621532
dbSNP Id:
rs1057519996
gnomAD v4:
17-7675217-T-G
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7675217T>G , CM000679.2:g.7675217T>G | GRCh38 |
| NC_000017.10:g.7578535T>G , CM000679.1:g.7578535T>G | GRCh37 |
| NC_000017.9:g.7519260T>G | NCBI36 |
| NG_017013.2:g.17334A>C , LRG_321:g.17334A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503591.2:c.395A>C | ENSP00000426252.2:p.Lys132Thr | |
| ENST00000508793.6:c.395A>C | ENSP00000424104.2:p.Lys132Thr | |
| ENST00000509690.6:c.-2A>C | ENSP00000425104.2:n.-2A>C | |
| ENST00000514944.6:c.116A>C | ENSP00000423862.2:p.Lys39Thr | |
| ENST00000604348.6:c.376-2A>C | ENSP00000473895.2:n.376-2A>C | |
| ENST00000269305.9:c.395A>C MANE Select | ENSP00000269305.4:p.Lys132Thr | |
| ENST00000269305.8:c.395A>C | ENSP00000269305.4:p.Lys132Thr | |
| ENST00000359597.8:c.395A>C | ENSP00000352610.4:p.Lys132Thr | |
| ENST00000413465.6:c.395A>C | ENSP00000410739.2:p.Lys132Thr | |
| ENST00000420246.6:c.395A>C | ENSP00000391127.2:p.Lys132Thr | |
| ENST00000445888.6:c.395A>C | ENSP00000391478.2:p.Lys132Thr | |
| ENST00000455263.6:c.395A>C | ENSP00000398846.2:p.Lys132Thr | |
| ENST00000504290.5:c.-2A>C | ENSP00000484409.1:n.-2A>C | |
| ENST00000504937.5:c.-2A>C | ENSP00000481179.1:n.-2A>C | |
| ENST00000505014.5:n.651A>C | ||
| ENST00000508793.5:c.395A>C | ENSP00000424104.1:p.Lys132Thr | |
| ENST00000509690.5:c.-2A>C | ENSP00000425104.1:n.-2A>C | |
| ENST00000510385.5:c.-2A>C | ENSP00000478499.1:n.-2A>C | |
| ENST00000514944.5:c.116A>C | ENSP00000423862.1:p.Lys39Thr | |
| ENST00000604348.5:c.376-2A>C | ENSP00000473895.1:n.376-2A>C | |
| ENST00000610292.4:c.278A>C | ENSP00000478219.1:p.Lys93Thr | |
| ENST00000610538.4:c.278A>C | ENSP00000480868.1:p.Lys93Thr | |
| ENST00000610623.4:c.-83A>C | ENSP00000477531.1:n.-83A>C | |
| ENST00000615910.4:c.362A>C | ENSP00000482903.1:p.Lys121Thr | |
| ENST00000617185.4:c.395A>C | ENSP00000482258.1:p.Lys132Thr | |
| ENST00000618944.4:c.-83A>C | ENSP00000481401.1:n.-83A>C | |
| ENST00000619186.4:c.-83A>C | ENSP00000484375.1:n.-83A>C | |
| ENST00000619485.4:c.278A>C | ENSP00000482537.1:p.Lys93Thr | |
| ENST00000620739.4:c.278A>C | ENSP00000481638.1:p.Lys93Thr | |
| ENST00000622645.4:c.278A>C | ENSP00000482222.1:p.Lys93Thr | |
| ENST00000635293.1:c.278A>C | ENSP00000488924.1:p.Lys93Thr | |
| NM_000546.5:c.395A>C , LRG_321t1:c.395A>C | NP_000537.3:p.Lys132Thr | |
| NM_001126112.2:c.395A>C , LRG_321t2:c.395A>C | NP_001119584.1:p.Lys132Thr | |
| NM_001126113.2:c.395A>C , LRG_321t4:c.395A>C | NP_001119585.1:p.Lys132Thr | |
| NM_001126114.2:c.395A>C , LRG_321t3:c.395A>C | NP_001119586.1:p.Lys132Thr | |
| NM_001126115.1:c.-2A>C , LRG_321t5:c.-2A>C | NP_001119587.1:n.-2A>C | |
| NM_001126116.1:c.-2A>C , LRG_321t6:c.-2A>C | NP_001119588.1:n.-2A>C | |
| NM_001126117.1:c.-2A>C , LRG_321t7:c.-2A>C | NP_001119589.1:n.-2A>C | |
| NM_001126118.1:c.278A>C , LRG_321t8:c.278A>C | NP_001119590.1:p.Lys93Thr | |
| NM_001276695.1:c.278A>C | NP_001263624.1:p.Lys93Thr | |
| NM_001276696.1:c.278A>C | NP_001263625.1:p.Lys93Thr | |
| NM_001276697.1:c.-83A>C | NP_001263626.1:n.-83A>C | |
| NM_001276698.1:c.-83A>C | NP_001263627.1:n.-83A>C | |
| NM_001276699.1:c.-83A>C | NP_001263628.1:n.-83A>C | |
| NM_001276760.1:c.278A>C | NP_001263689.1:p.Lys93Thr | |
| NM_001276761.1:c.278A>C | NP_001263690.1:p.Lys93Thr | |
| NM_001276695.2:c.278A>C | NP_001263624.1:p.Lys93Thr | |
| NM_001276696.2:c.278A>C | NP_001263625.1:p.Lys93Thr | |
| NM_001276697.2:c.-83A>C | NP_001263626.1:n.-83A>C | |
| NM_001276698.2:c.-83A>C | NP_001263627.1:n.-83A>C | |
| NM_001276699.2:c.-83A>C | NP_001263628.1:n.-83A>C | |
| NM_001276760.2:c.278A>C | NP_001263689.1:p.Lys93Thr | |
| NM_001276761.2:c.278A>C | NP_001263690.1:p.Lys93Thr | |
| NM_000546.6:c.395A>C MANE Select | NP_000537.3:p.Lys132Thr | |
| NM_001126112.3:c.395A>C | NP_001119584.1:p.Lys132Thr | |
| NM_001126113.3:c.395A>C | NP_001119585.1:p.Lys132Thr | |
| NM_001126114.3:c.395A>C | NP_001119586.1:p.Lys132Thr | |
| NM_001126115.2:c.-2A>C | NP_001119587.1:n.-2A>C | |
| NM_001126116.2:c.-2A>C | NP_001119588.1:n.-2A>C | |
| NM_001126117.2:c.-2A>C | NP_001119589.1:n.-2A>C | |
| NM_001126118.2:c.278A>C | NP_001119590.1:p.Lys93Thr | |
| NM_001276695.3:c.278A>C | NP_001263624.1:p.Lys93Thr | |
| NM_001276696.3:c.278A>C | NP_001263625.1:p.Lys93Thr | |
| NM_001276697.3:c.-83A>C | NP_001263626.1:n.-83A>C | |
| NM_001276698.3:c.-83A>C | NP_001263627.1:n.-83A>C | |
| NM_001276699.3:c.-83A>C | NP_001263628.1:n.-83A>C | |
| NM_001276760.3:c.278A>C | NP_001263689.1:p.Lys93Thr | |
| NM_001276761.3:c.278A>C | NP_001263690.1:p.Lys93Thr |