Linked Data
dbSNP Id:
rs747799106
ExAC:
5:37061087 G / A
gnomAD v2:
5-37061087-G-A
gnomAD v3:
5-37060985-G-A
gnomAD v4:
5-37060985-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37060985G>A , CM000667.2:g.37060985G>A | GRCh38 |
| NC_000005.9:g.37061087G>A , CM000667.1:g.37061087G>A | GRCh37 |
| NC_000005.8:g.37096844G>A | NCBI36 |
| NG_006987.1:g.189103G>A | |
| NG_006987.2:g.189103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.7827G>A MANE Select | ENSP00000282516.8:p.Glu2609= | |
| ENST00000652901.1:c.7680G>A | ENSP00000499536.1:p.Glu2560= | |
| ENST00000282516.12:c.7827G>A | ENSP00000282516.8:p.Glu2609= | |
| ENST00000448238.2:c.7827G>A | ENSP00000406266.2:p.Glu2609= | |
| ENST00000513819.1:c.263+1820G>A | ENSP00000421504.1:n.263+1820G>A | |
| ENST00000514335.1:n.1709G>A | ||
| ENST00000621733.1:c.1-3593G>A | ENSP00000480694.1:n.1-3593G>A | |
| NM_015384.4:c.7827G>A | NP_056199.2:p.Glu2609= | |
| NM_133433.3:c.7827G>A | NP_597677.2:p.Glu2609= | |
| XM_005248280.2:c.7827G>A | XP_005248337.1:p.Glu2609= | |
| XM_005248282.3:c.7083G>A | XP_005248339.2:p.Glu2361= | |
| XM_006714467.2:c.7680G>A | XP_006714530.1:p.Glu2560= | |
| XM_006714468.1:c.7629G>A | XP_006714531.1:p.Glu2543= | |
| XM_011514014.1:c.7446G>A | XP_011512316.1:p.Glu2482= | |
| XM_005248280.3:c.7827G>A | XP_005248337.1:p.Glu2609= | |
| XM_005248282.5:c.7167G>A | XP_005248339.3:p.Glu2389= | |
| XM_006714468.2:c.7629G>A | XP_006714531.1:p.Glu2543= | |
| XM_017009329.1:c.7680G>A | XP_016864818.1:p.Glu2560= | |
| XM_017009330.2:c.6210G>A | XP_016864819.1:p.Glu2070= | |
| XM_017009331.1:c.6201G>A | XP_016864820.1:p.Glu2067= | |
| NM_133433.4:c.7827G>A MANE Select | NP_597677.2:p.Glu2609= | |
| NM_015384.5:c.7827G>A | NP_056199.2:p.Glu2609= |