Linked Data
ClinVar Variation Id:
531850
ClinVar RCV Id:
RCV000638394
dbSNP Id:
rs773781896
ExAC:
9:140611368 A / G
gnomAD v2:
9-140611368-A-G
gnomAD v3:
9-137716916-A-G
gnomAD v4:
9-137716916-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137716916A>G , CM000671.2:g.137716916A>G | GRCh38 |
| NC_000009.11:g.140611368A>G , CM000671.1:g.140611368A>G | GRCh37 |
| NC_000009.10:g.139731189A>G | NCBI36 |
| NG_011776.1:g.102925A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.376A>G MANE Select | ENSP00000417980.1:p.Ile126Val | |
| ENST00000629335.2:c.376A>G | ENSP00000490056.1:p.Ile126Val | |
| ENST00000636027.1:c.283A>G | ENSP00000489961.1:p.Ile95Val | |
| ENST00000637161.1:c.283A>G | ENSP00000490328.1:p.Ile95Val | |
| ENST00000637261.1:c.352A>G | ENSP00000490815.1:p.Ile118Val | |
| ENST00000637977.1:c.321A>G | ||
| ENST00000371394.6:c.*111A>G | ENSP00000485945.1:n.*111A>G | |
| ENST00000460486.3:c.487A>G | ENSP00000486969.1:p.Ile163Val | |
| ENST00000460843.5:c.376A>G | ENSP00000417980.1:p.Ile126Val | |
| ENST00000462484.5:c.376A>G | ENSP00000417328.1:p.Ile126Val | |
| ENST00000492232.5:c.283A>G | ENSP00000486580.1:p.Ile95Val | |
| ENST00000626066.2:c.300A>G | ||
| ENST00000626216.2:c.283A>G | ENSP00000485878.1:p.Ile95Val | |
| ENST00000629417.1:c.283A>G | ENSP00000486857.1:p.Ile95Val | |
| ENST00000630754.2:c.283A>G | ENSP00000485933.1:p.Ile95Val | |
| NM_001145527.1:c.376A>G | NP_001138999.1:p.Ile126Val | |
| NM_024757.4:c.376A>G | NP_079033.4:p.Ile126Val | |
| XM_005266105.3:c.367A>G | XP_005266162.1:p.Ile123Val | |
| XM_005266110.1:c.283A>G | XP_005266167.1:p.Ile95Val | |
| XM_006717288.2:c.358A>G | XP_006717351.1:p.Ile120Val | |
| XM_011519021.1:c.385A>G | XP_011517323.1:p.Ile129Val | |
| XM_011519022.1:c.382A>G | XP_011517324.1:p.Ile128Val | |
| XM_011519023.1:c.385A>G | XP_011517325.1:p.Ile129Val | |
| XM_011519024.1:c.385A>G | XP_011517326.1:p.Ile129Val | |
| XM_011519025.1:c.283A>G | XP_011517327.1:p.Ile95Val | |
| XM_011519026.1:c.385A>G | XP_011517328.1:p.Ile129Val | |
| XM_011519027.1:c.385A>G | XP_011517329.1:p.Ile129Val | |
| XM_011519028.1:c.385A>G | XP_011517330.1:p.Ile129Val | |
| XM_011519033.1:c.385A>G | XP_011517335.1:p.Ile129Val | |
| NM_001354259.1:c.283A>G | NP_001341188.1:p.Ile95Val | |
| NM_001354263.1:c.376A>G | NP_001341192.1:p.Ile126Val | |
| NM_001354611.1:c.376A>G | NP_001341540.1:p.Ile126Val | |
| NM_001354612.1:c.283A>G | NP_001341541.1:p.Ile95Val | |
| XM_005266105.5:c.367A>G | XP_005266162.1:p.Ile123Val | |
| XM_011519021.3:c.385A>G | XP_011517323.1:p.Ile129Val | |
| XM_011519022.3:c.382A>G | XP_011517324.1:p.Ile128Val | |
| XM_011519023.3:c.385A>G | XP_011517325.1:p.Ile129Val | |
| XM_017015134.1:c.382A>G | XP_016870623.1:p.Ile128Val | |
| XM_017015136.2:c.376A>G | XP_016870625.1:p.Ile126Val | |
| XM_017015137.1:c.283A>G | XP_016870626.1:p.Ile95Val | |
| XM_017015138.1:c.283A>G | XP_016870627.1:p.Ile95Val | |
| XM_024447674.1:c.283A>G | XP_024303442.1:p.Ile95Val | |
| XM_024447675.1:c.283A>G | XP_024303443.1:p.Ile95Val | |
| XM_024447678.1:c.283A>G | XP_024303446.1:p.Ile95Val | |
| XM_024447679.1:c.283A>G | XP_024303447.1:p.Ile95Val | |
| XM_024447680.1:c.283A>G | XP_024303448.1:p.Ile95Val | |
| NM_024757.5:c.376A>G MANE Select | NP_079033.4:p.Ile126Val | |
| NM_001145527.2:c.376A>G | NP_001138999.1:p.Ile126Val | |
| NM_001354259.2:c.283A>G | NP_001341188.1:p.Ile95Val | |
| NM_001354263.2:c.376A>G | NP_001341192.1:p.Ile126Val | |
| NM_001354611.2:c.376A>G | NP_001341540.1:p.Ile126Val | |
| NM_001354612.2:c.283A>G | NP_001341541.1:p.Ile95Val |