Linked Data
ClinVar Variation Id:
978196
dbSNP Id:
rs368923826
ExAC:
15:34112994 A / G
gnomAD v2:
15-34112994-A-G
gnomAD v3:
15-33820793-A-G
gnomAD v4:
15-33820793-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.33820793A>G , CM000677.2:g.33820793A>G | GRCh38 |
| NC_000015.9:g.34112994A>G , CM000677.1:g.34112994A>G | GRCh37 |
| NC_000015.8:g.31900286A>G | NCBI36 |
| NG_047076.1:g.515011A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634891.2:c.10796A>G MANE Select | ENSP00000489262.1:p.Asp3599Gly | |
| ENST00000635790.1:c.4140A>G | ||
| ENST00000389232.9:c.10793A>G | ENSP00000373884.5:p.Asp3598Gly | |
| ENST00000415757.7:c.10781A>G | ENSP00000399610.3:p.Asp3594Gly | |
| ENST00000557931.1:n.77A>G | ||
| ENST00000622037.1:c.10805A>G | ENSP00000483166.1:p.Asp3602Gly | |
| ENST00000634418.1:c.10781A>G | ENSP00000489529.1:p.Asp3594Gly | |
| ENST00000634891.1:c.10796A>G | ENSP00000489262.1:p.Asp3599Gly | |
| NM_001036.4:c.10796A>G | NP_001027.3:p.Asp3599Gly | |
| NM_001243996.2:c.10781A>G | NP_001230925.1:p.Asp3594Gly | |
| XM_011521880.1:c.10781A>G | XP_011520182.1:p.Asp3594Gly | |
| XM_011521880.2:c.10781A>G | XP_011520182.1:p.Asp3594Gly | |
| XM_017022468.1:c.10784A>G | XP_016877957.1:p.Asp3595Gly | |
| XM_017022469.1:c.10781A>G | XP_016877958.1:p.Asp3594Gly | |
| XM_017022470.2:c.10781A>G | XP_016877959.1:p.Asp3594Gly | |
| XM_017022471.1:c.10781A>G | XP_016877960.1:p.Asp3594Gly | |
| XM_017022472.1:c.10778A>G | XP_016877961.1:p.Asp3593Gly | |
| XM_017022473.1:c.10784A>G | XP_016877962.1:p.Asp3595Gly | |
| XM_017022474.1:c.10763A>G | XP_016877963.1:p.Asp3588Gly | |
| XM_017022475.1:c.10784A>G | XP_016877964.1:p.Asp3595Gly | |
| XM_017022476.1:c.10676A>G | XP_016877965.1:p.Asp3559Gly | |
| XM_017022477.1:c.10784A>G | XP_016877966.1:p.Asp3595Gly | |
| XM_024450015.1:c.10778A>G | XP_024305783.1:p.Asp3593Gly | |
| XM_024450016.1:c.10775A>G | XP_024305784.1:p.Asp3592Gly | |
| XR_001751369.1:n.11056A>G | ||
| XR_001751370.1:n.10956A>G | ||
| NM_001036.5:c.10796A>G | NP_001027.3:p.Asp3599Gly | |
| NM_001243996.3:c.10781A>G | NP_001230925.1:p.Asp3594Gly | |
| NM_001036.6:c.10796A>G MANE Select | NP_001027.3:p.Asp3599Gly | |
| NM_001243996.4:c.10781A>G | NP_001230925.1:p.Asp3594Gly |