Linked Data
dbSNP Id:
rs781054477
ExAC:
5:36995729 A / G
gnomAD v2:
5-36995729-A-G
gnomAD v4:
5-36995627-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36995627A>G , CM000667.2:g.36995627A>G | GRCh38 |
| NC_000005.9:g.36995729A>G , CM000667.1:g.36995729A>G | GRCh37 |
| NC_000005.8:g.37031486A>G | NCBI36 |
| NG_006987.1:g.123745A>G | |
| NG_006987.2:g.123745A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.3127A>G MANE Select | ENSP00000282516.8:p.Ile1043Val | |
| ENST00000652901.1:c.3127A>G | ENSP00000499536.1:p.Ile1043Val | |
| ENST00000282516.12:c.3127A>G | ENSP00000282516.8:p.Ile1043Val | |
| ENST00000448238.2:c.3127A>G | ENSP00000406266.2:p.Ile1043Val | |
| ENST00000503274.1:n.478A>G | ||
| ENST00000504430.5:n.2747A>G | ||
| ENST00000621733.1:c.1-68951A>G | ENSP00000480694.1:n.1-68951A>G | |
| NM_015384.4:c.3127A>G | NP_056199.2:p.Ile1043Val | |
| NM_133433.3:c.3127A>G | NP_597677.2:p.Ile1043Val | |
| XM_005248280.2:c.3127A>G | XP_005248337.1:p.Ile1043Val | |
| XM_005248282.3:c.2383A>G | XP_005248339.2:p.Ile795Val | |
| XM_006714467.2:c.3127A>G | XP_006714530.1:p.Ile1043Val | |
| XM_006714468.1:c.3127A>G | XP_006714531.1:p.Ile1043Val | |
| XM_011514014.1:c.3122-5190A>G | XP_011512316.1:n.3122-5190A>G | |
| XM_011514015.1:c.3127A>G | XP_011512317.1:p.Ile1043Val | |
| XM_005248280.3:c.3127A>G | XP_005248337.1:p.Ile1043Val | |
| XM_005248282.5:c.2467A>G | XP_005248339.3:p.Ile823Val | |
| XM_006714468.2:c.3127A>G | XP_006714531.1:p.Ile1043Val | |
| XM_017009329.1:c.3127A>G | XP_016864818.1:p.Ile1043Val | |
| XM_017009330.2:c.1510A>G | XP_016864819.1:p.Ile504Val | |
| XM_017009331.1:c.1501A>G | XP_016864820.1:p.Ile501Val | |
| NM_133433.4:c.3127A>G MANE Select | NP_597677.2:p.Ile1043Val | |
| NM_015384.5:c.3127A>G | NP_056199.2:p.Ile1043Val |