Linked Data
ClinVar Variation Id:
130360
dbSNP Id:
rs146747167
ExAC:
6:107955663 A / G
gnomAD v2:
6-107955663-A-G
gnomAD v3:
6-107634459-A-G
gnomAD v4:
6-107634459-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634459A>G , CM000668.2:g.107634459A>G | GRCh38 |
| NC_000006.11:g.107955663A>G , CM000668.1:g.107955663A>G | GRCh37 |
| NC_000006.10:g.108062356A>G | NCBI36 |
| NG_028200.1:g.149347A>G | |
| NG_028200.2:g.149347A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.1615A>G MANE Select | ENSP00000318900.5:p.Ile539Val | |
| ENST00000317357.9:c.1615A>G | ENSP00000318900.5:p.Ile539Val | |
| NM_018013.3:c.1615A>G | NP_060483.3:p.Ile539Val | |
| XM_005267041.3:c.1768A>G | XP_005267098.1:p.Ile590Val | |
| XM_005267042.3:c.1672A>G | XP_005267099.1:p.Ile558Val | |
| XM_011535920.1:c.1768A>G | XP_011534222.1:p.Ile590Val | |
| XM_011535921.1:c.1654A>G | XP_011534223.1:p.Ile552Val | |
| XM_011535922.1:c.1027A>G | XP_011534224.1:p.Ile343Val | |
| XM_011535923.1:c.838A>G | XP_011534225.1:p.Ile280Val | |
| XM_005267041.4:c.1768A>G | XP_005267098.1:p.Ile590Val | |
| XM_005267042.4:c.1672A>G | XP_005267099.1:p.Ile558Val | |
| XM_011535920.2:c.1768A>G | XP_011534222.1:p.Ile590Val | |
| XM_011535921.2:c.1654A>G | XP_011534223.1:p.Ile552Val | |
| XM_011535923.2:c.838A>G | XP_011534225.1:p.Ile280Val | |
| XM_017010991.1:c.1168A>G | XP_016866480.1:p.Ile390Val | |
| XM_017010992.1:c.1168A>G | XP_016866481.1:p.Ile390Val | |
| XM_017010993.1:c.1168A>G | XP_016866482.1:p.Ile390Val | |
| XM_017010994.1:c.1168A>G | XP_016866483.1:p.Ile390Val | |
| NM_018013.4:c.1615A>G MANE Select | NP_060483.3:p.Ile539Val |