Linked Data
dbSNP Id:
rs748070521
ExAC:
19:18001750 G / A
gnomAD v2:
19-18001750-G-A
gnomAD v4:
19-17890941-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17890941G>A , CM000681.2:g.17890941G>A | GRCh38 |
| NC_000019.9:g.18001750G>A , CM000681.1:g.18001750G>A | GRCh37 |
| NC_000019.8:g.17862750G>A | NCBI36 |
| NG_012930.1:g.23969G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.1707G>A MANE Select | ENSP00000222248.2:p.Arg569= | |
| ENST00000222248.3:c.1707G>A | ENSP00000222248.2:p.Arg569= | |
| NM_000453.2:c.1707G>A | NP_000444.1:p.Arg569= | |
| XM_011528192.1:c.1740G>A | XP_011526494.1:p.Arg580= | |
| XM_011528193.1:c.1473G>A | XP_011526495.1:p.Arg491= | |
| XM_011528194.1:c.1374G>A | XP_011526496.1:p.Arg458= | |
| XM_011528192.2:c.1740G>A | XP_011526494.1:p.Arg580= | |
| XM_011528193.3:c.1473G>A | XP_011526495.1:p.Arg491= | |
| XM_011528194.3:c.1374G>A | XP_011526496.1:p.Arg458= | |
| XM_017027158.1:c.1440G>A | XP_016882647.1:p.Arg480= | |
| NM_000453.3:c.1707G>A MANE Select | NP_000444.1:p.Arg569= |