Linked Data
dbSNP Id:
rs370143038
ExAC:
19:41928096 G / A
gnomAD v2:
19-41928096-G-A
gnomAD v4:
19-41422191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422191G>A , CM000681.2:g.41422191G>A | GRCh38 |
| NC_000019.9:g.41928096G>A , CM000681.1:g.41928096G>A | GRCh37 |
| NC_000019.8:g.46619936G>A | NCBI36 |
| NG_013004.1:g.29403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.674G>A MANE Select | ENSP00000269980.2:p.Arg225Gln | |
| ENST00000269980.6:c.674G>A | ENSP00000269980.2:p.Arg225Gln | |
| ENST00000457836.6:c.608G>A | ENSP00000416000.2:p.Arg203Gln | |
| ENST00000535632.5:n.303G>A | ||
| ENST00000538423.5:n.800G>A | ||
| ENST00000540732.3:c.776G>A | ENSP00000443246.1:p.Arg259Gln | |
| ENST00000541315.1:c.574G>A | ||
| ENST00000542943.5:c.587G>A | ENSP00000440345.1:p.Arg196Gln | |
| ENST00000545787.1:n.302G>A | ||
| ENST00000595085.5:c.674G>A | ENSP00000471150.2:p.Arg225Gln | |
| NM_000709.3:c.674G>A | NP_000700.1:p.Arg225Gln | |
| NM_001164783.1:c.674G>A | NP_001158255.1:p.Arg225Gln | |
| NM_000709.4:c.674G>A MANE Select | NP_000700.1:p.Arg225Gln | |
| NM_001164783.2:c.674G>A | NP_001158255.1:p.Arg225Gln |