Linked Data
ClinVar Variation Id:
411342
dbSNP Id:
rs369834416
ExAC:
5:112174820 A / G
gnomAD v2:
5-112174820-A-G
gnomAD v3:
5-112839123-A-G
gnomAD v4:
5-112839123-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839123A>G , CM000667.2:g.112839123A>G | GRCh38 |
| NC_000005.9:g.112174820A>G , CM000667.1:g.112174820A>G | GRCh37 |
| NC_000005.8:g.112202719A>G | NCBI36 |
| NG_008481.4:g.151603A>G , LRG_130:g.151603A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3194A>G | ENSP00000484935.2:n.3194A>G | |
| ENST00000504915.3:c.3583A>G | ENSP00000473355.2:p.Ile1195Val | |
| ENST00000505350.2:c.*3535A>G | ENSP00000481752.1:n.*3535A>G | |
| ENST00000507379.6:c.3475A>G | ENSP00000423224.2:p.Ile1159Val | |
| ENST00000509732.6:c.3529A>G | ENSP00000426541.2:p.Ile1177Val | |
| ENST00000512211.7:c.3529A>G | ENSP00000423828.3:p.Ile1177Val | |
| ENST00000257430.9:c.3529A>G MANE Select | ENSP00000257430.4:p.Ile1177Val | |
| ENST00000257430.8:c.3529A>G | ENSP00000257430.4:p.Ile1177Val | |
| ENST00000502371.2:c.1882A>G | ||
| ENST00000508376.6:c.3529A>G | ENSP00000427089.2:p.Ile1177Val | |
| ENST00000508624.5:c.*2851A>G | ENSP00000424265.1:n.*2851A>G | |
| ENST00000512211.6:c.3529A>G | ENSP00000423828.2:p.Ile1177Val | |
| ENST00000520401.1:c.230+10151A>G | ||
| NM_000038.5:c.3529A>G | NP_000029.2:p.Ile1177Val | |
| NM_001127510.2:c.3529A>G | NP_001120982.1:p.Ile1177Val | |
| NM_001127511.2:c.3475A>G | NP_001120983.2:p.Ile1159Val | |
| NM_001354895.1:c.3529A>G | NP_001341824.1:p.Ile1177Val | |
| NM_001354896.1:c.3583A>G | NP_001341825.1:p.Ile1195Val | |
| NM_001354897.1:c.3559A>G | NP_001341826.1:p.Ile1187Val | |
| NM_001354898.1:c.3454A>G | NP_001341827.1:p.Ile1152Val | |
| NM_001354899.1:c.3445A>G | NP_001341828.1:p.Ile1149Val | |
| NM_001354900.1:c.3406A>G | NP_001341829.1:p.Ile1136Val | |
| NM_001354901.1:c.3352A>G | NP_001341830.1:p.Ile1118Val | |
| NM_001354902.1:c.3256A>G | NP_001341831.1:p.Ile1086Val | |
| NM_001354903.1:c.3226A>G | NP_001341832.1:p.Ile1076Val | |
| NM_001354904.1:c.3151A>G | NP_001341833.1:p.Ile1051Val | |
| NM_001354905.1:c.3049A>G | NP_001341834.1:p.Ile1017Val | |
| NM_001354906.1:c.2680A>G | NP_001341835.1:p.Ile894Val | |
| NM_000038.6:c.3529A>G MANE Select | NP_000029.2:p.Ile1177Val | |
| NM_001127510.3:c.3529A>G | NP_001120982.1:p.Ile1177Val | |
| NM_001127511.3:c.3475A>G | NP_001120983.2:p.Ile1159Val | |
| NM_001354895.2:c.3529A>G | NP_001341824.1:p.Ile1177Val | |
| NM_001354896.2:c.3583A>G | NP_001341825.1:p.Ile1195Val | |
| NM_001354897.2:c.3559A>G | NP_001341826.1:p.Ile1187Val | |
| NM_001354898.2:c.3454A>G | NP_001341827.1:p.Ile1152Val | |
| NM_001354899.2:c.3445A>G | NP_001341828.1:p.Ile1149Val | |
| NM_001354900.2:c.3406A>G | NP_001341829.1:p.Ile1136Val | |
| NM_001354901.2:c.3352A>G | NP_001341830.1:p.Ile1118Val | |
| NM_001354902.2:c.3256A>G | NP_001341831.1:p.Ile1086Val | |
| NM_001354903.2:c.3226A>G | NP_001341832.1:p.Ile1076Val | |
| NM_001354904.2:c.3151A>G | NP_001341833.1:p.Ile1051Val | |
| NM_001354905.2:c.3049A>G | NP_001341834.1:p.Ile1017Val | |
| NM_001354906.2:c.2680A>G | NP_001341835.1:p.Ile894Val |