Linked Data
dbSNP Id:
rs747852202
ExAC:
5:37060985 A / G
gnomAD v2:
5-37060985-A-G
gnomAD v4:
5-37060883-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37060883A>G , CM000667.2:g.37060883A>G | GRCh38 |
| NC_000005.9:g.37060985A>G , CM000667.1:g.37060985A>G | GRCh37 |
| NC_000005.8:g.37096742A>G | NCBI36 |
| NG_006987.1:g.189001A>G | |
| NG_006987.2:g.189001A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.7725A>G MANE Select | ENSP00000282516.8:p.Val2575= | |
| ENST00000652901.1:c.7578A>G | ENSP00000499536.1:p.Val2526= | |
| ENST00000282516.12:c.7725A>G | ENSP00000282516.8:p.Val2575= | |
| ENST00000448238.2:c.7725A>G | ENSP00000406266.2:p.Val2575= | |
| ENST00000513819.1:c.263+1718A>G | ENSP00000421504.1:n.263+1718A>G | |
| ENST00000514335.1:n.1607A>G | ||
| ENST00000621733.1:c.1-3695A>G | ENSP00000480694.1:n.1-3695A>G | |
| NM_015384.4:c.7725A>G | NP_056199.2:p.Val2575= | |
| NM_133433.3:c.7725A>G | NP_597677.2:p.Val2575= | |
| XM_005248280.2:c.7725A>G | XP_005248337.1:p.Val2575= | |
| XM_005248282.3:c.6981A>G | XP_005248339.2:p.Val2327= | |
| XM_006714467.2:c.7578A>G | XP_006714530.1:p.Val2526= | |
| XM_006714468.1:c.7527A>G | XP_006714531.1:p.Val2509= | |
| XM_011514014.1:c.7344A>G | XP_011512316.1:p.Val2448= | |
| XM_011514015.1:c.*37A>G | XP_011512317.1:n.*37A>G | |
| XM_005248280.3:c.7725A>G | XP_005248337.1:p.Val2575= | |
| XM_005248282.5:c.7065A>G | XP_005248339.3:p.Val2355= | |
| XM_006714468.2:c.7527A>G | XP_006714531.1:p.Val2509= | |
| XM_017009329.1:c.7578A>G | XP_016864818.1:p.Val2526= | |
| XM_017009330.2:c.6108A>G | XP_016864819.1:p.Val2036= | |
| XM_017009331.1:c.6099A>G | XP_016864820.1:p.Val2033= | |
| NM_133433.4:c.7725A>G MANE Select | NP_597677.2:p.Val2575= | |
| NM_015384.5:c.7725A>G | NP_056199.2:p.Val2575= |