Linked Data
ClinVar Variation Id:
194857
dbSNP Id:
rs140990288
ExAC:
2:165984284 C / T
gnomAD v2:
2-165984284-C-T
gnomAD v3:
2-165127774-C-T
gnomAD v4:
2-165127774-C-T
ERepo:
CA214587/MONDO:0100062/069
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165127774C>T , CM000664.2:g.165127774C>T | GRCh38 |
| NC_000002.11:g.165984284C>T , CM000664.1:g.165984284C>T | GRCh37 |
| NC_000002.10:g.165692530C>T | NCBI36 |
| NG_042289.1:g.81315G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706067.1:c.3199G>A | ENSP00000516211.1:p.Val1067Ile | |
| ENST00000283254.12:c.3250G>A MANE Select | ENSP00000283254.7:p.Val1084Ile | |
| ENST00000638473.1:c.*1091G>A | ENSP00000491552.1:n.*1091G>A | |
| ENST00000639244.1:c.3199G>A | ENSP00000492251.1:p.Val1067Ile | |
| ENST00000640652.1:c.3199G>A | ENSP00000492807.1:p.Val1067Ile | |
| ENST00000658209.1:c.1348G>A | ENSP00000499598.1:p.Val450Ile | |
| ENST00000668657.1:c.3112G>A | ENSP00000499420.1:p.Val1038Ile | |
| ENST00000283254.11:c.3250G>A | ENSP00000283254.7:p.Val1084Ile | |
| ENST00000360093.7:c.3250G>A | ENSP00000353206.3:p.Val1084Ile | |
| ENST00000409101.7:c.3103G>A | ENSP00000386726.3:p.Val1035Ile | |
| ENST00000440431.6:c.3103G>A | ENSP00000403348.1:p.Val1035Ile | |
| ENST00000484898.1:n.19G>A | ||
| NM_001081676.1:c.3103G>A | NP_001075145.1:p.Val1035Ile | |
| NM_001081677.1:c.3103G>A | NP_001075146.1:p.Val1035Ile | |
| NM_006922.3:c.3250G>A | NP_008853.3:p.Val1084Ile | |
| XM_006712679.1:c.3250G>A | XP_006712742.1:p.Val1084Ile | |
| XM_011511610.1:c.3250G>A | XP_011509912.1:p.Val1084Ile | |
| XM_011511611.1:c.3250G>A | XP_011509913.1:p.Val1084Ile | |
| XM_011511612.1:c.3199G>A | XP_011509914.1:p.Val1067Ile | |
| XM_011511613.1:c.1360G>A | XP_011509915.1:p.Val454Ile | |
| XM_011511614.1:c.3250G>A | XP_011509916.1:p.Val1084Ile | |
| XM_011511610.3:c.3250G>A | XP_011509912.1:p.Val1084Ile | |
| XM_011511613.3:c.1360G>A | XP_011509915.1:p.Val454Ile | |
| XM_017004660.2:c.3250G>A | XP_016860149.1:p.Val1084Ile | |
| XM_017004661.2:c.3199G>A | XP_016860150.1:p.Val1067Ile | |
| XM_017004662.2:c.3112G>A | XP_016860151.1:p.Val1038Ile | |
| XM_017004663.2:c.1360G>A | XP_016860152.1:p.Val454Ile | |
| XM_017004664.1:c.3250G>A | XP_016860153.1:p.Val1084Ile | |
| XM_017004665.1:c.3112G>A | XP_016860154.1:p.Val1038Ile | |
| XM_017004666.1:c.3103G>A | XP_016860155.1:p.Val1035Ile | |
| NM_006922.4:c.3250G>A MANE Select | NP_008853.3:p.Val1084Ile | |
| NM_001081676.2:c.3103G>A | NP_001075145.1:p.Val1035Ile | |
| NM_001081677.2:c.3103G>A | NP_001075146.1:p.Val1035Ile |