Linked Data
dbSNP Id:
rs150854879
ExAC:
1:8418409 G / C
gnomAD v2:
1-8418409-G-C
gnomAD v3:
1-8358349-G-C
gnomAD v4:
1-8358349-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8358349G>C , CM000663.2:g.8358349G>C | GRCh38 |
| NC_000001.10:g.8418409G>C , CM000663.1:g.8418409G>C | GRCh37 |
| NC_000001.9:g.8340996G>C | NCBI36 |
| NG_047035.1:g.464343C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.2524C>G | ENSP00000515651.1:p.Leu842Val | |
| ENST00000400908.7:c.4186C>G MANE Select | ENSP00000383700.2:p.Leu1396Val | |
| ENST00000337907.7:c.4186C>G | ENSP00000338629.3:p.Leu1396Val | |
| ENST00000377464.5:c.3382C>G | ENSP00000366684.1:p.Leu1128Val | |
| ENST00000400907.6:c.1541-2750C>G | ENSP00000383699.2:n.1541-2750C>G | |
| ENST00000400908.6:c.4186C>G | ENSP00000383700.2:p.Leu1396Val | |
| ENST00000476556.5:c.2524C>G | ENSP00000422246.1:p.Leu842Val | |
| ENST00000505225.1:c.308-2103C>G | ENSP00000423451.1:n.308-2103C>G | |
| NM_001042681.1:c.4186C>G | NP_001036146.1:p.Leu1396Val | |
| NM_001042682.1:c.2524C>G | NP_001036147.1:p.Leu842Val | |
| NM_012102.3:c.4186C>G | NP_036234.3:p.Leu1396Val | |
| XM_005263464.1:c.4186C>G | XP_005263521.1:p.Leu1396Val | |
| XM_005263466.1:c.3382C>G | XP_005263523.1:p.Leu1128Val | |
| XM_006710653.1:c.4186C>G | XP_006710716.1:p.Leu1396Val | |
| XM_011541510.1:c.4060C>G | XP_011539812.1:p.Leu1354Val | |
| XM_005263464.2:c.4186C>G | XP_005263521.1:p.Leu1396Val | |
| XM_011541510.2:c.4060C>G | XP_011539812.1:p.Leu1354Val | |
| XM_017001358.1:c.4186C>G | XP_016856847.1:p.Leu1396Val | |
| XM_017001359.1:c.4186C>G | XP_016856848.1:p.Leu1396Val | |
| NM_001042681.2:c.4186C>G MANE Select | NP_001036146.1:p.Leu1396Val | |
| NM_001042682.2:c.2524C>G | NP_001036147.1:p.Leu842Val | |
| NM_012102.4:c.4186C>G | NP_036234.3:p.Leu1396Val |