Linked Data
ClinVar Variation Id:
2083676
ClinVar RCV Id:
RCV003009179
dbSNP Id:
rs2119446879
COSMIC:
COSM4683437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014299G>A , CM000672.2:g.89014299G>A | GRCh38 |
| NC_000010.10:g.90774056G>A , CM000672.1:g.90774056G>A | GRCh37 |
| NC_000010.9:g.90764036G>A | NCBI36 |
| NG_009089.2:g.28769G>A , LRG_134:g.28769G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1166G>A | ||
| ENST00000355740.8:c.*180G>A | ENSP00000347979.3:n.*180G>A | |
| ENST00000357339.7:c.794G>A | ENSP00000349896.2:p.Gly265Glu | |
| ENST00000371857.8:n.2402G>A | ||
| ENST00000460510.6:c.140G>A | ENSP00000512812.1:p.Gly47Glu | |
| ENST00000466081.6:n.2506G>A | ||
| ENST00000477270.6:c.902G>A | ENSP00000512813.1:p.Gly301Glu | |
| ENST00000479522.6:c.*286G>A | ENSP00000424113.1:n.*286G>A | |
| ENST00000484444.6:c.*298G>A | ENSP00000420975.1:n.*298G>A | |
| ENST00000488877.6:c.748G>A | ENSP00000425159.1:n.748G>A | |
| ENST00000492756.7:c.*286G>A | ENSP00000422453.1:n.*286G>A | |
| ENST00000494799.6:c.140G>A | ENSP00000512834.1:p.Gly47Glu | |
| ENST00000562983.3:c.140G>A | ENSP00000512845.1:p.Gly47Glu | |
| ENST00000612663.6:c.*259G>A | ENSP00000477997.3:n.*259G>A | |
| ENST00000640140.2:n.1002G>A | ||
| ENST00000640250.2:n.356G>A | ||
| ENST00000640681.2:n.961G>A | ||
| ENST00000696723.1:n.4490G>A | ||
| ENST00000696741.1:n.2495G>A | ||
| ENST00000696742.1:n.2222G>A | ||
| ENST00000696743.1:n.3625G>A | ||
| ENST00000696744.1:n.896G>A | ||
| ENST00000696767.1:n.1191G>A | ||
| ENST00000696768.1:c.*180G>A | ENSP00000512859.1:n.*180G>A | |
| ENST00000696769.1:n.2546G>A | ||
| ENST00000696771.1:c.140G>A | ENSP00000512860.1:p.Gly47Glu | |
| ENST00000696772.1:n.2460G>A | ||
| ENST00000696773.1:n.2199G>A | ||
| ENST00000696774.1:n.5967G>A | ||
| ENST00000696776.1:c.950G>A | ENSP00000512861.1:p.Gly317Glu | |
| ENST00000696777.1:n.2265G>A | ||
| ENST00000696778.1:n.1293G>A | ||
| ENST00000696779.1:c.464G>A | ENSP00000512862.1:p.Gly155Glu | |
| ENST00000696780.1:c.887G>A | ENSP00000512863.1:p.Gly296Glu | |
| ENST00000696781.1:c.602G>A | ENSP00000512864.1:p.Gly201Glu | |
| ENST00000696782.1:c.*259G>A | ENSP00000512865.1:n.*259G>A | |
| ENST00000696783.1:n.2725G>A | ||
| ENST00000696992.1:n.1974G>A | ||
| ENST00000696995.1:n.4386G>A | ||
| ENST00000696996.1:n.2299G>A | ||
| ENST00000696997.1:c.*487G>A | ENSP00000513028.1:n.*487G>A | |
| ENST00000696998.1:n.2111G>A | ||
| ENST00000696999.1:c.140G>A | ENSP00000513029.1:p.Gly47Glu | |
| ENST00000697035.1:c.*190G>A | ENSP00000513059.1:n.*190G>A | |
| ENST00000697036.1:c.*273G>A | ENSP00000513060.1:n.*273G>A | |
| ENST00000697037.1:n.892G>A | ||
| ENST00000697093.1:n.3093G>A | ||
| ENST00000697094.1:n.3440G>A | ||
| ENST00000697095.1:c.*2058G>A | ENSP00000513104.1:n.*2058G>A | |
| ENST00000697096.1:n.1990G>A | ||
| ENST00000697097.1:c.140G>A | ENSP00000513105.1:p.Gly47Glu | |
| ENST00000562983.2:n.1043G>A | ||
| ENST00000690268.1:c.938G>A | ENSP00000509810.1:p.Gly313Glu | |
| ENST00000355740.7:c.*183G>A | ENSP00000347979.3:n.*183G>A | |
| ENST00000612663.5:c.*259G>A | ENSP00000477997.3:n.*259G>A | |
| ENST00000640140.1:n.1029G>A | ||
| ENST00000640250.1:n.356G>A | ||
| ENST00000640681.1:n.978G>A | ||
| ENST00000652046.1:c.857G>A MANE Select | ENSP00000498466.1:p.Gly286Glu | |
| ENST00000352159.8:c.*174G>A | ENSP00000345601.4:n.*174G>A | |
| ENST00000355279.2:c.832G>A | ENSP00000347426.2:n.832G>A | |
| ENST00000355740.6:c.857G>A | ENSP00000347979.2:p.Gly286Glu | |
| ENST00000357339.6:c.794G>A | ENSP00000349896.2:p.Gly265Glu | |
| ENST00000479522.5:c.*286G>A | ENSP00000424113.1:n.*286G>A | |
| ENST00000484444.5:c.*298G>A | ENSP00000420975.1:n.*298G>A | |
| ENST00000488877.5:c.*298G>A | ENSP00000425159.1:n.*298G>A | |
| ENST00000492756.5:c.685G>A | ENSP00000422453.1:n.685G>A | |
| ENST00000494410.5:c.*215G>A | ENSP00000423755.1:n.*215G>A | |
| ENST00000612663.4:c.*204G>A | ENSP00000477997.2:n.*204G>A | |
| NM_000043.4:c.857G>A , LRG_134t1:c.857G>A | NP_000034.1:p.Gly286Glu | |
| NM_152871.2:c.794G>A | NP_690610.1:p.Gly265Glu | |
| NM_152872.2:c.*169G>A | NP_690611.1:n.*169G>A | |
| NR_028033.2:n.1031G>A | ||
| NR_028034.2:n.893G>A | ||
| NR_028035.2:n.956G>A | ||
| NR_028036.2:n.1094G>A | ||
| XM_006717819.2:c.938G>A | XP_006717882.1:p.Gly313Glu | |
| XM_011539764.1:c.1019G>A | XP_011538066.1:p.Gly340Glu | |
| XM_011539765.1:c.956G>A | XP_011538067.1:p.Gly319Glu | |
| XM_011539766.1:c.938G>A | XP_011538068.1:p.Gly313Glu | |
| XM_011539767.1:c.902G>A | XP_011538069.1:p.Gly301Glu | |
| XR_945732.1:n.925G>A | ||
| XR_945733.1:n.862G>A | ||
| NM_000043.5:c.857G>A | NP_000034.1:p.Gly286Glu | |
| NM_001320619.1:c.*180G>A | NP_001307548.1:n.*180G>A | |
| NM_152871.3:c.794G>A | NP_690610.1:p.Gly265Glu | |
| NM_152872.3:c.*169G>A | NP_690611.1:n.*169G>A | |
| NR_028033.3:n.1003G>A | ||
| NR_028034.3:n.865G>A | ||
| NR_028035.3:n.928G>A | ||
| NR_028036.3:n.1066G>A | ||
| NR_135313.1:n.983G>A | ||
| NR_135314.1:n.1166G>A | ||
| NR_135315.1:n.919G>A | ||
| XM_006717819.3:c.938G>A | XP_006717882.1:p.Gly313Glu | |
| XM_011539764.2:c.1019G>A | XP_011538066.1:p.Gly340Glu | |
| XM_011539765.2:c.956G>A | XP_011538067.1:p.Gly319Glu | |
| XM_011539766.2:c.938G>A | XP_011538068.1:p.Gly313Glu | |
| XM_011539767.3:c.902G>A | XP_011538069.1:p.Gly301Glu | |
| XR_945732.3:n.925G>A | ||
| XR_945733.2:n.862G>A | ||
| NM_000043.6:c.857G>A MANE Select | NP_000034.1:p.Gly286Glu | |
| NM_001320619.2:c.*180G>A | NP_001307548.1:n.*180G>A | |
| NM_152871.4:c.794G>A | NP_690610.1:p.Gly265Glu | |
| NM_152872.4:c.*169G>A | NP_690611.1:n.*169G>A | |
| NR_028033.4:n.764G>A | ||
| NR_028034.4:n.626G>A | ||
| NR_028035.4:n.689G>A | ||
| NR_028036.4:n.827G>A | ||
| NR_135313.2:n.744G>A | ||
| NR_135314.2:n.1023G>A | ||
| NR_135315.2:n.776G>A |