Linked Data
dbSNP Id:
rs755498926
ExAC:
7:44184827 T / C
gnomAD v2:
7-44184827-T-C
gnomAD v4:
7-44145228-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145228T>C , CM000669.2:g.44145228T>C | GRCh38 |
| NC_000007.13:g.44184827T>C , CM000669.1:g.44184827T>C | GRCh37 |
| NC_000007.12:g.44151352T>C | NCBI36 |
| NG_008847.1:g.49196A>G | |
| NG_008847.2:g.57943A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1304A>G | ENSP00000379142.4:n.*1304A>G | |
| ENST00000616242.5:c.*426A>G | ENSP00000482149.2:n.*426A>G | |
| ENST00000683378.1:n.532A>G | ||
| ENST00000336642.9:c.340A>G | ENSP00000338009.5:p.Ile114Val | |
| ENST00000345378.7:c.1309A>G | ENSP00000223366.2:p.Ile437Val | |
| ENST00000403799.8:c.1306A>G MANE Select | ENSP00000384247.3:p.Ile436Val | |
| ENST00000671824.1:c.1369A>G | ENSP00000500264.1:p.Ile457Val | |
| ENST00000672743.1:n.318A>G | ||
| ENST00000673284.1:c.1306A>G | ENSP00000499852.1:p.Ile436Val | |
| ENST00000336642.8:c.358A>G | ENSP00000338009.4:p.Ile120Val | |
| ENST00000345378.6:c.1309A>G | ENSP00000223366.2:p.Ile437Val | |
| ENST00000395796.7:c.1303A>G | ENSP00000379142.3:p.Ile435Val | |
| ENST00000403799.7:c.1306A>G | ENSP00000384247.3:p.Ile436Val | |
| ENST00000437084.1:c.1255A>G | ENSP00000402840.1:p.Ile419Val | |
| ENST00000459642.1:n.686A>G | ||
| ENST00000616242.4:c.1303A>G | ENSP00000482149.1:p.Ile435Val | |
| NM_000162.3:c.1306A>G | NP_000153.1:p.Ile436Val | |
| NM_033507.1:c.1309A>G | NP_277042.1:p.Ile437Val | |
| NM_033508.1:c.1303A>G | NP_277043.1:p.Ile435Val | |
| NM_000162.4:c.1306A>G | NP_000153.1:p.Ile436Val | |
| NM_001354800.1:c.1306A>G | NP_001341729.1:p.Ile436Val | |
| NM_001354801.1:c.295A>G | NP_001341730.1:p.Ile99Val | |
| NM_001354802.1:c.166A>G | NP_001341731.1:p.Ile56Val | |
| NM_001354803.1:c.340A>G | NP_001341732.1:p.Ile114Val | |
| NM_033507.2:c.1309A>G | NP_277042.1:p.Ile437Val | |
| NM_033508.2:c.1303A>G | NP_277043.1:p.Ile435Val | |
| XM_024446707.1:c.166A>G | XP_024302475.1:p.Ile56Val | |
| NM_000162.5:c.1306A>G MANE Select | NP_000153.1:p.Ile436Val | |
| NM_033507.3:c.1309A>G | NP_277042.1:p.Ile437Val | |
| NM_033508.3:c.1303A>G | NP_277043.1:p.Ile435Val | |
| NM_001354803.2:c.340A>G | NP_001341732.1:p.Ile114Val |