Linked Data
ClinVar Variation Id:
855843
ClinVar RCV Id:
RCV002240396
dbSNP Id:
rs780773753
ExAC:
5:147805123 A / G
gnomAD v2:
5-147805123-A-G
gnomAD v3:
5-148425560-A-G
gnomAD v4:
5-148425560-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148425560A>G , CM000667.2:g.148425560A>G | GRCh38 |
| NC_000005.9:g.147805123A>G , CM000667.1:g.147805123A>G | GRCh37 |
| NC_000005.8:g.147785316A>G | NCBI36 |
| NG_033871.1:g.46626A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340253.10:c.1777A>G MANE Select | ENSP00000342023.6:p.Ile593Val | |
| ENST00000296701.10:c.1777A>G | ENSP00000296701.6:p.Ile593Val | |
| ENST00000340253.9:c.1777A>G | ENSP00000342023.5:p.Ile593Val | |
| ENST00000394370.7:c.1777A>G | ENSP00000377895.3:p.Ile593Val | |
| ENST00000513826.1:c.1777A>G | ENSP00000426410.1:p.Ile593Val | |
| ENST00000514832.1:n.408A>G | ||
| NM_001271723.1:c.1777A>G | NP_001258652.1:p.Ile593Val | |
| NM_030793.4:c.1777A>G | NP_110420.3:p.Ile593Val | |
| XM_005268513.1:c.1777A>G | XP_005268570.1:p.Ile593Val | |
| XM_006714797.1:c.1777A>G | XP_006714860.1:p.Ile593Val | |
| XM_011537683.1:c.679A>G | XP_011535985.1:p.Ile227Val | |
| XM_011537684.1:c.577A>G | XP_011535986.1:p.Ile193Val | |
| NM_205836.2:c.1777A>G | NP_995308.1:p.Ile593Val | |
| XM_006714797.2:c.1777A>G | XP_006714860.1:p.Ile593Val | |
| XM_011537684.3:c.577A>G | XP_011535986.1:p.Ile193Val | |
| XM_017009899.1:c.679A>G | XP_016865388.1:p.Ile227Val | |
| XM_017009900.2:c.577A>G | XP_016865389.1:p.Ile193Val | |
| XM_017009901.2:c.679A>G | XP_016865390.1:p.Ile227Val | |
| XM_017009902.2:c.577A>G | XP_016865391.1:p.Ile193Val | |
| XM_024446223.1:c.1777A>G | XP_024301991.1:p.Ile593Val | |
| XR_001742284.1:n.1923A>G | ||
| NM_030793.5:c.1777A>G | NP_110420.3:p.Ile593Val | |
| NM_205836.3:c.1777A>G MANE Select | NP_995308.1:p.Ile593Val | |
| NM_001271723.2:c.1777A>G | NP_001258652.1:p.Ile593Val |