MyVariant.info:
GRCh38
chr19:g.41850561C>T
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56795482 (SAS)
Genomes Max Group AF
0.5390129 (SAS)
Exomes Max Group AF
0.56870198 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41850561C>T , CM000681.2:g.41850561C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269945.8:c.852C>T MANE Select | ENSP00000269945.2:p.Gly284= | |
| ENST00000269945.7:c.852C>T | ENSP00000269945.2:p.Gly284= | |
| ENST00000596827.5:c.1005C>T | ENSP00000469525.1:p.Gly335= | |
| ENST00000599022.1:n.318C>T | ||
| ENST00000601660.5:c.*370C>T | ENSP00000472159.1:n.*370C>T | |
| NM_001040283.2:c.852C>T | NP_001035373.1:p.Gly284= | |
| XM_005259146.3:c.861C>T | XP_005259203.1:p.Gly287= | |
| XM_005259148.3:c.852C>T | XP_005259205.1:p.Gly284= | |
| XM_011527212.1:c.852C>T | XP_011525514.1:p.Gly284= | |
| XM_011527213.1:c.852C>T | XP_011525515.1:p.Gly284= | |
| XM_011527214.1:c.483C>T | XP_011525516.1:p.Gly161= | |
| XM_011527215.1:c.483C>T | XP_011525517.1:p.Gly161= | |
| XM_017027123.1:c.1020C>T | XP_016882612.1:p.Gly340= | |
| XM_017027124.2:c.1014C>T | XP_016882613.1:p.Gly338= | |
| XM_017027125.1:c.1005C>T | XP_016882614.1:p.Gly335= | |
| XM_017027126.2:c.1005C>T | XP_016882615.1:p.Gly335= | |
| XM_017027127.2:c.1005C>T | XP_016882616.1:p.Gly335= | |
| XM_017027128.1:c.1005C>T | XP_016882617.1:p.Gly335= | |
| XM_017027129.1:c.867C>T | XP_016882618.1:p.Gly289= | |
| NM_001040283.3:c.852C>T MANE Select | NP_001035373.1:p.Gly284= |