Linked Data
MyVariant Identifiers:
chr19:g.44055791T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551639T>A , CM000681.2:g.43551639T>A | GRCh38 |
| NC_000019.9:g.44055791T>A , CM000681.1:g.44055791T>A | GRCh37 |
| NC_000019.8:g.48747631T>A | NCBI36 |
| NG_033799.1:g.28940A>T , LRG_784:g.28940A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1131A>T MANE Select | ENSP00000262887.5:p.Gly377= | |
| ENST00000262887.9:c.1131A>T | ENSP00000262887.4:p.Gly377= | |
| ENST00000543982.5:c.1038A>T | ENSP00000443671.1:p.Gly346= | |
| ENST00000597811.5:c.741A>T | ||
| NM_006297.2:c.1131A>T , LRG_784t1:c.1131A>T | NP_006288.2:p.Gly377= | |
| NM_006297.3:c.1131A>T MANE Select | NP_006288.2:p.Gly377= |