Linked Data
ClinVar Variation Id:
1166904
ClinVar RCV Id:
RCV001515626
dbSNP Id:
rs2229116
ExAC:
15:33905410 A / G
gnomAD v2:
15-33905410-A-G
gnomAD v3:
15-33613209-A-G
gnomAD v4:
15-33613209-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.33613209A>G , CM000677.2:g.33613209A>G | GRCh38 |
| NC_000015.9:g.33905410A>G , CM000677.1:g.33905410A>G | GRCh37 |
| NC_000015.8:g.31692702A>G | NCBI36 |
| NG_047076.1:g.307427A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634891.2:c.2191A>G MANE Select | ENSP00000489262.1:p.Ile731Val | |
| ENST00000389232.9:c.2191A>G | ENSP00000373884.5:p.Ile731Val | |
| ENST00000415757.7:c.2191A>G | ENSP00000399610.3:p.Ile731Val | |
| ENST00000622037.1:c.2191A>G | ENSP00000483166.1:p.Ile731Val | |
| ENST00000634418.1:c.2191A>G | ENSP00000489529.1:p.Ile731Val | |
| ENST00000634891.1:c.2191A>G | ENSP00000489262.1:p.Ile731Val | |
| NM_001036.4:c.2191A>G | NP_001027.3:p.Ile731Val | |
| NM_001243996.2:c.2191A>G | NP_001230925.1:p.Ile731Val | |
| XM_011521880.1:c.2191A>G | XP_011520182.1:p.Ile731Val | |
| XM_011521880.2:c.2191A>G | XP_011520182.1:p.Ile731Val | |
| XM_017022468.1:c.2191A>G | XP_016877957.1:p.Ile731Val | |
| XM_017022469.1:c.2191A>G | XP_016877958.1:p.Ile731Val | |
| XM_017022470.2:c.2188A>G | XP_016877959.1:p.Ile730Val | |
| XM_017022471.1:c.2191A>G | XP_016877960.1:p.Ile731Val | |
| XM_017022472.1:c.2191A>G | XP_016877961.1:p.Ile731Val | |
| XM_017022473.1:c.2191A>G | XP_016877962.1:p.Ile731Val | |
| XM_017022474.1:c.2170A>G | XP_016877963.1:p.Ile724Val | |
| XM_017022475.1:c.2191A>G | XP_016877964.1:p.Ile731Val | |
| XM_017022476.1:c.2083A>G | XP_016877965.1:p.Ile695Val | |
| XM_017022477.1:c.2191A>G | XP_016877966.1:p.Ile731Val | |
| XM_024450015.1:c.2191A>G | XP_024305783.1:p.Ile731Val | |
| XM_024450016.1:c.2191A>G | XP_024305784.1:p.Ile731Val | |
| XR_001751369.1:n.2463A>G | ||
| XR_001751370.1:n.2463A>G | ||
| XR_001751371.2:n.2463A>G | ||
| NM_001036.5:c.2191A>G | NP_001027.3:p.Ile731Val | |
| NM_001243996.3:c.2191A>G | NP_001230925.1:p.Ile731Val | |
| NM_001036.6:c.2191A>G MANE Select | NP_001027.3:p.Ile731Val | |
| NM_001243996.4:c.2191A>G | NP_001230925.1:p.Ile731Val |