Linked Data
ClinVar Variation Id:
418012
dbSNP Id:
rs769504783
ExAC:
5:112175051 A / G
gnomAD v2:
5-112175051-A-G
gnomAD v3:
5-112839354-A-G
gnomAD v4:
5-112839354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839354A>G , CM000667.2:g.112839354A>G | GRCh38 |
| NC_000005.9:g.112175051A>G , CM000667.1:g.112175051A>G | GRCh37 |
| NC_000005.8:g.112202950A>G | NCBI36 |
| NG_008481.4:g.151834A>G , LRG_130:g.151834A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3425A>G | ENSP00000484935.2:n.3425A>G | |
| ENST00000504915.3:c.3814A>G | ENSP00000473355.2:p.Ile1272Val | |
| ENST00000505350.2:c.*3766A>G | ENSP00000481752.1:n.*3766A>G | |
| ENST00000507379.6:c.3706A>G | ENSP00000423224.2:p.Ile1236Val | |
| ENST00000509732.6:c.3760A>G | ENSP00000426541.2:p.Ile1254Val | |
| ENST00000512211.7:c.3760A>G | ENSP00000423828.3:p.Ile1254Val | |
| ENST00000257430.9:c.3760A>G MANE Select | ENSP00000257430.4:p.Ile1254Val | |
| ENST00000257430.8:c.3760A>G | ENSP00000257430.4:p.Ile1254Val | |
| ENST00000502371.2:c.2113A>G | ||
| ENST00000508376.6:c.3760A>G | ENSP00000427089.2:p.Ile1254Val | |
| ENST00000508624.5:c.*3082A>G | ENSP00000424265.1:n.*3082A>G | |
| ENST00000512211.6:c.3760A>G | ENSP00000423828.2:p.Ile1254Val | |
| ENST00000520401.1:c.230+10382A>G | ||
| NM_000038.5:c.3760A>G | NP_000029.2:p.Ile1254Val | |
| NM_001127510.2:c.3760A>G | NP_001120982.1:p.Ile1254Val | |
| NM_001127511.2:c.3706A>G | NP_001120983.2:p.Ile1236Val | |
| NM_001354895.1:c.3760A>G | NP_001341824.1:p.Ile1254Val | |
| NM_001354896.1:c.3814A>G | NP_001341825.1:p.Ile1272Val | |
| NM_001354897.1:c.3790A>G | NP_001341826.1:p.Ile1264Val | |
| NM_001354898.1:c.3685A>G | NP_001341827.1:p.Ile1229Val | |
| NM_001354899.1:c.3676A>G | NP_001341828.1:p.Ile1226Val | |
| NM_001354900.1:c.3637A>G | NP_001341829.1:p.Ile1213Val | |
| NM_001354901.1:c.3583A>G | NP_001341830.1:p.Ile1195Val | |
| NM_001354902.1:c.3487A>G | NP_001341831.1:p.Ile1163Val | |
| NM_001354903.1:c.3457A>G | NP_001341832.1:p.Ile1153Val | |
| NM_001354904.1:c.3382A>G | NP_001341833.1:p.Ile1128Val | |
| NM_001354905.1:c.3280A>G | NP_001341834.1:p.Ile1094Val | |
| NM_001354906.1:c.2911A>G | NP_001341835.1:p.Ile971Val | |
| NM_000038.6:c.3760A>G MANE Select | NP_000029.2:p.Ile1254Val | |
| NM_001127510.3:c.3760A>G | NP_001120982.1:p.Ile1254Val | |
| NM_001127511.3:c.3706A>G | NP_001120983.2:p.Ile1236Val | |
| NM_001354895.2:c.3760A>G | NP_001341824.1:p.Ile1254Val | |
| NM_001354896.2:c.3814A>G | NP_001341825.1:p.Ile1272Val | |
| NM_001354897.2:c.3790A>G | NP_001341826.1:p.Ile1264Val | |
| NM_001354898.2:c.3685A>G | NP_001341827.1:p.Ile1229Val | |
| NM_001354899.2:c.3676A>G | NP_001341828.1:p.Ile1226Val | |
| NM_001354900.2:c.3637A>G | NP_001341829.1:p.Ile1213Val | |
| NM_001354901.2:c.3583A>G | NP_001341830.1:p.Ile1195Val | |
| NM_001354902.2:c.3487A>G | NP_001341831.1:p.Ile1163Val | |
| NM_001354903.2:c.3457A>G | NP_001341832.1:p.Ile1153Val | |
| NM_001354904.2:c.3382A>G | NP_001341833.1:p.Ile1128Val | |
| NM_001354905.2:c.3280A>G | NP_001341834.1:p.Ile1094Val | |
| NM_001354906.2:c.2911A>G | NP_001341835.1:p.Ile971Val |