MyVariant.info:
GRCh37
chr19:g.44057574G>T
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43553422G>T , CM000681.2:g.43553422G>T | GRCh38 |
| NC_000019.9:g.44057574G>T , CM000681.1:g.44057574G>T | GRCh37 |
| NC_000019.8:g.48749414G>T | NCBI36 |
| NG_033799.1:g.27157C>A , LRG_784:g.27157C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.580C>A MANE Select | ENSP00000262887.5:p.Arg194= | |
| ENST00000262887.9:c.580C>A | ENSP00000262887.4:p.Arg194= | |
| ENST00000543982.5:c.487C>A | ENSP00000443671.1:p.Arg163= | |
| ENST00000594107.1:c.469C>A | ENSP00000471159.1:p.Arg157= | |
| ENST00000595789.5:n.628C>A | ||
| ENST00000597811.5:c.365C>A | ||
| ENST00000598165.5:c.601C>A | ENSP00000470045.1:p.Arg201= | |
| ENST00000598422.1:n.260C>A | ||
| ENST00000599693.5:c.506C>A | ||
| NM_006297.2:c.580C>A , LRG_784t1:c.580C>A | NP_006288.2:p.Arg194= | |
| NM_006297.3:c.580C>A MANE Select | NP_006288.2:p.Arg194= |