Linked Data
dbSNP Id:
rs201796075
ExAC:
6:154360591 G / A
gnomAD v2:
6-154360591-G-A
gnomAD v3:
6-154039456-G-A
gnomAD v4:
6-154039456-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154039456G>A , CM000668.2:g.154039456G>A | GRCh38 |
| NC_000006.11:g.154360591G>A , CM000668.1:g.154360591G>A | GRCh37 |
| NC_000006.10:g.154402284G>A | NCBI36 |
| NG_021208.1:g.33956G>A | |
| NG_021208.2:g.33956G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330432.12:c.-89G>A MANE Select | ENSP00000328264.7:n.-89G>A | |
| ENST00000330432.11:c.-89G>A | ENSP00000328264.7:n.-89G>A | |
| ENST00000360422.8:c.98G>A | ENSP00000353598.5:p.Arg33Gln | |
| ENST00000428397.6:c.-89G>A | ENSP00000411903.2:n.-89G>A | |
| ENST00000434900.6:c.191G>A | ENSP00000394624.2:p.Arg64Gln | |
| ENST00000452687.6:c.-89G>A | ENSP00000410497.2:n.-89G>A | |
| ENST00000518759.5:c.47+28897G>A | ENSP00000430260.1:n.47+28897G>A | |
| ENST00000520282.5:c.56G>A | ENSP00000430247.1:p.Arg19Gln | |
| ENST00000520708.5:c.-11+28438G>A | ENSP00000430876.1:n.-11+28438G>A | |
| ENST00000523520.1:n.93G>A | ||
| NM_000914.4:c.-89G>A | NP_000905.3:n.-89G>A | |
| NM_001008503.2:c.-89G>A | NP_001008503.2:n.-89G>A | |
| NM_001008504.3:c.-89G>A | NP_001008504.2:n.-89G>A | |
| NM_001008505.2:c.-89G>A | NP_001008505.2:n.-89G>A | |
| NM_001145279.3:c.191G>A | NP_001138751.1:p.Arg64Gln | |
| NM_001145280.3:c.-11+28438G>A | NP_001138752.1:n.-11+28438G>A | |
| NM_001145281.2:c.47+28897G>A | NP_001138753.1:n.47+28897G>A | |
| NM_001145282.2:c.-89G>A | NP_001138754.1:n.-89G>A | |
| NM_001145283.2:c.-89G>A | NP_001138755.1:n.-89G>A | |
| NM_001145284.3:c.-89G>A | NP_001138756.1:n.-89G>A | |
| NM_001145285.2:c.-89G>A | NP_001138757.1:n.-89G>A | |
| NM_001145286.2:c.-89G>A | NP_001138758.1:n.-89G>A | |
| NM_001285522.1:c.-89G>A | NP_001272451.1:n.-89G>A | |
| NM_001285523.1:c.-89G>A | NP_001272452.1:n.-89G>A | |
| NM_001285524.1:c.191G>A | NP_001272453.1:p.Arg64Gln | |
| NR_104348.1:n.46G>A | ||
| NR_104349.1:n.46G>A | ||
| NR_104350.1:n.46G>A | ||
| NR_104351.1:n.46G>A | ||
| XM_006715497.2:c.98G>A | XP_006715560.1:p.Arg33Gln | |
| XM_011535849.1:c.191G>A | XP_011534151.1:p.Arg64Gln | |
| NM_001285523.2:c.-89G>A | NP_001272452.1:n.-89G>A | |
| XM_017010907.2:c.98G>A | XP_016866396.1:p.Arg33Gln | |
| NM_000914.5:c.-89G>A MANE Select | NP_000905.3:n.-89G>A | |
| NM_001008503.3:c.-89G>A | NP_001008503.2:n.-89G>A | |
| NM_001008504.4:c.-89G>A | NP_001008504.2:n.-89G>A | |
| NM_001145279.4:c.191G>A | NP_001138751.1:p.Arg64Gln | |
| NM_001145280.4:c.-11+28438G>A | NP_001138752.1:n.-11+28438G>A | |
| NM_001145281.3:c.47+28897G>A | NP_001138753.1:n.47+28897G>A | |
| NM_001145285.3:c.-89G>A | NP_001138757.1:n.-89G>A | |
| NM_001145286.3:c.-89G>A | NP_001138758.1:n.-89G>A | |
| NM_001285523.3:c.-89G>A | NP_001272452.1:n.-89G>A |