Linked Data
ClinVar Variation Id:
2974870
ClinVar RCV Id:
RCV003838492
dbSNP Id:
rs761787363
ExAC:
17:27061849 A / G
gnomAD v2:
17-27061849-A-G
gnomAD v4:
17-28734831-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28734831A>G , CM000679.2:g.28734831A>G | GRCh38 |
| NC_000017.10:g.27061849A>G , CM000679.1:g.27061849A>G | GRCh37 |
| NC_000017.9:g.24085976A>G | NCBI36 |
| NG_012263.1:g.11018A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268766.11:c.313A>G MANE Select | ENSP00000268766.6:p.Ile105Val | |
| ENST00000268766.10:c.313A>G | ENSP00000268766.6:p.Ile105Val | |
| ENST00000543014.1:c.313A>G | ENSP00000465859.1:p.Ile105Val | |
| ENST00000579060.5:c.196A>G | ENSP00000466896.1:p.Ile66Val | |
| ENST00000579671.5:c.196A>G | ENSP00000467335.1:p.Ile66Val | |
| ENST00000584342.5:n.350A>G | ||
| ENST00000593261.1:n.311A>G | ||
| NM_178170.2:c.313A>G | NP_835464.1:p.Ile105Val | |
| XM_011524638.1:c.385A>G | XP_011522940.1:p.Ile129Val | |
| XM_011524639.1:c.313A>G | XP_011522941.1:p.Ile105Val | |
| XM_011524640.1:c.385A>G | XP_011522942.1:p.Ile129Val | |
| XM_011524641.1:c.196A>G | XP_011522943.1:p.Ile66Val | |
| XM_011524642.1:c.196A>G | XP_011522944.1:p.Ile66Val | |
| XM_011524643.1:c.196A>G | XP_011522945.1:p.Ile66Val | |
| XM_011524644.1:c.69A>G | XP_011522946.1:p.Pro23= | |
| XM_011524645.1:c.385A>G | XP_011522947.1:p.Ile129Val | |
| XR_934448.1:n.517A>G | ||
| NM_178170.3:c.313A>G MANE Select | NP_835464.1:p.Ile105Val | |
| XM_011524638.3:c.385A>G | XP_011522940.1:p.Ile129Val | |
| XM_011524640.3:c.385A>G | XP_011522942.1:p.Ile129Val | |
| XM_017024499.2:c.313A>G | XP_016879988.1:p.Ile105Val | |
| XM_017024500.2:c.196A>G | XP_016879989.1:p.Ile66Val | |
| XM_017024501.1:c.385A>G | XP_016879990.1:p.Ile129Val | |
| XR_001752497.2:n.517A>G |