Linked Data
ClinVar Variation Id:
376650
ClinVar RCV Id:
RCV000417467
RCV000418814
RCV000418608
RCV000421737
RCV000422458
RCV000422684
RCV000428488
RCV000428624
RCV000428841
RCV000427240
RCV000427500
RCV000433789
RCV000432738
RCV000435387
RCV000435132
RCV000437481
RCV000438469
RCV000439587
RCV000439979
RCV000443648
RCV000444469
RCV000445195
RCV001371092
RCV004022236
dbSNP Id:
rs587778720
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7674893C>A , CM000679.2:g.7674893C>A | GRCh38 |
| NC_000017.10:g.7578211C>A , CM000679.1:g.7578211C>A | GRCh37 |
| NC_000017.9:g.7518936C>A | NCBI36 |
| NG_017013.2:g.17658G>T , LRG_321:g.17658G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503591.2:c.638G>T | ENSP00000426252.2:p.Arg213Leu | |
| ENST00000508793.6:c.638G>T | ENSP00000424104.2:p.Arg213Leu | |
| ENST00000509690.6:c.242G>T | ENSP00000425104.2:p.Arg81Leu | |
| ENST00000514944.6:c.359G>T | ENSP00000423862.2:p.Arg120Leu | |
| ENST00000604348.6:c.617G>T | ENSP00000473895.2:p.Arg206Leu | |
| ENST00000269305.9:c.638G>T MANE Select | ENSP00000269305.4:p.Arg213Leu | |
| ENST00000269305.8:c.638G>T | ENSP00000269305.4:p.Arg213Leu | |
| ENST00000359597.8:c.638G>T | ENSP00000352610.4:p.Arg213Leu | |
| ENST00000413465.6:c.638G>T | ENSP00000410739.2:p.Arg213Leu | |
| ENST00000420246.6:c.638G>T | ENSP00000391127.2:p.Arg213Leu | |
| ENST00000445888.6:c.638G>T | ENSP00000391478.2:p.Arg213Leu | |
| ENST00000455263.6:c.638G>T | ENSP00000398846.2:p.Arg213Leu | |
| ENST00000504290.5:c.242G>T | ENSP00000484409.1:p.Arg81Leu | |
| ENST00000504937.5:c.242G>T | ENSP00000481179.1:p.Arg81Leu | |
| ENST00000505014.5:n.894G>T | ||
| ENST00000509690.5:c.242G>T | ENSP00000425104.1:p.Arg81Leu | |
| ENST00000510385.5:c.242G>T | ENSP00000478499.1:p.Arg81Leu | |
| ENST00000514944.5:c.359G>T | ENSP00000423862.1:p.Arg120Leu | |
| ENST00000574684.1:n.67+160G>T | ||
| ENST00000610292.4:c.521G>T | ENSP00000478219.1:p.Arg174Leu | |
| ENST00000610538.4:c.521G>T | ENSP00000480868.1:p.Arg174Leu | |
| ENST00000610623.4:c.161G>T | ENSP00000477531.1:p.Arg54Leu | |
| ENST00000615910.4:c.605G>T | ENSP00000482903.1:p.Arg202Leu | |
| ENST00000617185.4:c.638G>T | ENSP00000482258.1:p.Arg213Leu | |
| ENST00000618944.4:c.161G>T | ENSP00000481401.1:p.Arg54Leu | |
| ENST00000619186.4:c.161G>T | ENSP00000484375.1:p.Arg54Leu | |
| ENST00000619485.4:c.521G>T | ENSP00000482537.1:p.Arg174Leu | |
| ENST00000620739.4:c.521G>T | ENSP00000481638.1:p.Arg174Leu | |
| ENST00000622645.4:c.521G>T | ENSP00000482222.1:p.Arg174Leu | |
| ENST00000635293.1:c.521G>T | ENSP00000488924.1:p.Arg174Leu | |
| NM_000546.5:c.638G>T , LRG_321t1:c.638G>T | NP_000537.3:p.Arg213Leu | |
| NM_001126112.2:c.638G>T , LRG_321t2:c.638G>T | NP_001119584.1:p.Arg213Leu | |
| NM_001126113.2:c.638G>T , LRG_321t4:c.638G>T | NP_001119585.1:p.Arg213Leu | |
| NM_001126114.2:c.638G>T , LRG_321t3:c.638G>T | NP_001119586.1:p.Arg213Leu | |
| NM_001126115.1:c.242G>T , LRG_321t5:c.242G>T | NP_001119587.1:p.Arg81Leu | |
| NM_001126116.1:c.242G>T , LRG_321t6:c.242G>T | NP_001119588.1:p.Arg81Leu | |
| NM_001126117.1:c.242G>T , LRG_321t7:c.242G>T | NP_001119589.1:p.Arg81Leu | |
| NM_001126118.1:c.521G>T , LRG_321t8:c.521G>T | NP_001119590.1:p.Arg174Leu | |
| NM_001276695.1:c.521G>T | NP_001263624.1:p.Arg174Leu | |
| NM_001276696.1:c.521G>T | NP_001263625.1:p.Arg174Leu | |
| NM_001276697.1:c.161G>T | NP_001263626.1:p.Arg54Leu | |
| NM_001276698.1:c.161G>T | NP_001263627.1:p.Arg54Leu | |
| NM_001276699.1:c.161G>T | NP_001263628.1:p.Arg54Leu | |
| NM_001276760.1:c.521G>T | NP_001263689.1:p.Arg174Leu | |
| NM_001276761.1:c.521G>T | NP_001263690.1:p.Arg174Leu | |
| NM_001276695.2:c.521G>T | NP_001263624.1:p.Arg174Leu | |
| NM_001276696.2:c.521G>T | NP_001263625.1:p.Arg174Leu | |
| NM_001276697.2:c.161G>T | NP_001263626.1:p.Arg54Leu | |
| NM_001276698.2:c.161G>T | NP_001263627.1:p.Arg54Leu | |
| NM_001276699.2:c.161G>T | NP_001263628.1:p.Arg54Leu | |
| NM_001276760.2:c.521G>T | NP_001263689.1:p.Arg174Leu | |
| NM_001276761.2:c.521G>T | NP_001263690.1:p.Arg174Leu | |
| NM_000546.6:c.638G>T MANE Select | NP_000537.3:p.Arg213Leu | |
| NM_001126112.3:c.638G>T | NP_001119584.1:p.Arg213Leu | |
| NM_001126113.3:c.638G>T | NP_001119585.1:p.Arg213Leu | |
| NM_001126114.3:c.638G>T | NP_001119586.1:p.Arg213Leu | |
| NM_001126115.2:c.242G>T | NP_001119587.1:p.Arg81Leu | |
| NM_001126116.2:c.242G>T | NP_001119588.1:p.Arg81Leu | |
| NM_001126117.2:c.242G>T | NP_001119589.1:p.Arg81Leu | |
| NM_001126118.2:c.521G>T | NP_001119590.1:p.Arg174Leu | |
| NM_001276695.3:c.521G>T | NP_001263624.1:p.Arg174Leu | |
| NM_001276696.3:c.521G>T | NP_001263625.1:p.Arg174Leu | |
| NM_001276697.3:c.161G>T | NP_001263626.1:p.Arg54Leu | |
| NM_001276698.3:c.161G>T | NP_001263627.1:p.Arg54Leu | |
| NM_001276699.3:c.161G>T | NP_001263628.1:p.Arg54Leu | |
| NM_001276760.3:c.521G>T | NP_001263689.1:p.Arg174Leu | |
| NM_001276761.3:c.521G>T | NP_001263690.1:p.Arg174Leu |