Linked Data
ClinVar Variation Id:
462994
dbSNP Id:
rs752508274
ExAC:
9:140710444 A / G
gnomAD v2:
9-140710444-A-G
gnomAD v3:
9-137815992-A-G
gnomAD v4:
9-137815992-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137815992A>G , CM000671.2:g.137815992A>G | GRCh38 |
| NC_000009.11:g.140710444A>G , CM000671.1:g.140710444A>G | GRCh37 |
| NC_000009.10:g.139830265A>G | NCBI36 |
| NG_011776.1:g.202001A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3304A>G MANE Select | ENSP00000417980.1:p.Ile1102Val | |
| ENST00000637161.1:c.3211A>G | ENSP00000490328.1:p.Ile1071Val | |
| ENST00000637261.1:c.3344A>G | ENSP00000490815.1:n.3344A>G | |
| ENST00000637748.1:n.241A>G | ||
| ENST00000637891.1:c.1378A>G | ENSP00000490907.1:n.1378A>G | |
| ENST00000460843.5:c.3304A>G | ENSP00000417980.1:p.Ile1102Val | |
| ENST00000462942.3:c.2161A>G | ENSP00000436107.1:p.Ile721Val | |
| ENST00000494249.5:n.657A>G | ||
| NM_024757.4:c.3304A>G | NP_079033.4:p.Ile1102Val | |
| XM_005266105.3:c.3295A>G | XP_005266162.1:p.Ile1099Val | |
| XM_005266110.1:c.3211A>G | XP_005266167.1:p.Ile1071Val | |
| XM_006717288.2:c.3286A>G | XP_006717351.1:p.Ile1096Val | |
| XM_011519021.1:c.3313A>G | XP_011517323.1:p.Ile1105Val | |
| XM_011519022.1:c.3310A>G | XP_011517324.1:p.Ile1104Val | |
| XM_011519023.1:c.3292A>G | XP_011517325.1:p.Ile1098Val | |
| XM_011519024.1:c.3235A>G | XP_011517326.1:p.Ile1079Val | |
| XM_011519025.1:c.3211A>G | XP_011517327.1:p.Ile1071Val | |
| XM_011519026.1:c.3169A>G | XP_011517328.1:p.Ile1057Val | |
| XM_011519029.1:c.1735A>G | XP_011517331.1:p.Ile579Val | |
| XM_011519030.1:c.1087A>G | XP_011517332.1:p.Ile363Val | |
| XM_011519031.1:c.874A>G | XP_011517333.1:p.Ile292Val | |
| XM_011519032.1:c.874A>G | XP_011517334.1:p.Ile292Val | |
| XM_011519033.1:c.3148A>G | XP_011517335.1:p.Ile1050Val | |
| XR_930459.1:n.5297-1430T>C | ||
| NM_001354263.1:c.3283A>G | NP_001341192.1:p.Ile1095Val | |
| XM_005266105.5:c.3295A>G | XP_005266162.1:p.Ile1099Val | |
| XM_011519021.3:c.3313A>G | XP_011517323.1:p.Ile1105Val | |
| XM_011519022.3:c.3310A>G | XP_011517324.1:p.Ile1104Val | |
| XM_011519023.3:c.3292A>G | XP_011517325.1:p.Ile1098Val | |
| XM_011519029.3:c.1735A>G | XP_011517331.1:p.Ile579Val | |
| XM_011519030.3:c.1087A>G | XP_011517332.1:p.Ile363Val | |
| XM_017015134.1:c.3289A>G | XP_016870623.1:p.Ile1097Val | |
| XM_017015136.2:c.3205A>G | XP_016870625.1:p.Ile1069Val | |
| XM_017015137.1:c.3190A>G | XP_016870626.1:p.Ile1064Val | |
| XM_017015138.1:c.3190A>G | XP_016870627.1:p.Ile1064Val | |
| XM_024447674.1:c.3133A>G | XP_024303442.1:p.Ile1045Val | |
| XM_024447675.1:c.3067A>G | XP_024303443.1:p.Ile1023Val | |
| XM_024447676.1:c.2428A>G | XP_024303444.1:p.Ile810Val | |
| XM_024447677.1:c.2428A>G | XP_024303445.1:p.Ile810Val | |
| XM_024447680.1:c.3046A>G | XP_024303448.1:p.Ile1016Val | |
| NM_024757.5:c.3304A>G MANE Select | NP_079033.4:p.Ile1102Val | |
| NM_001354263.2:c.3283A>G | NP_001341192.1:p.Ile1095Val |