gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50187486G>T , CM000679.2:g.50187486G>T | GRCh38 |
| NC_000017.10:g.48264847G>T , CM000679.1:g.48264847G>T | GRCh37 |
| NC_000017.9:g.45619846G>T | NCBI36 |
| NG_007400.1:g.19154C>A , LRG_1:g.19154C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3421C>A MANE Select | ENSP00000225964.6:p.Arg1141= | |
| ENST00000225964.9:c.3421C>A | ENSP00000225964.5:p.Arg1141= | |
| NM_000088.3:c.3421C>A , LRG_1t1:c.3421C>A | NP_000079.2:p.Arg1141= | |
| XM_005257058.3:c.3151C>A | XP_005257115.2:p.Arg1051= | |
| XM_005257059.3:c.2503C>A | XP_005257116.2:p.Arg835= | |
| XM_011524341.1:c.3223C>A | XP_011522643.1:p.Arg1075= | |
| XM_005257058.4:c.3151C>A | XP_005257115.2:p.Arg1051= | |
| XM_005257059.4:c.2503C>A | XP_005257116.2:p.Arg835= | |
| NM_000088.4:c.3421C>A MANE Select | NP_000079.2:p.Arg1141= |