Linked Data
MyVariant Identifiers:
chr5:g.156668672C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157241662C>A , CM000667.2:g.157241662C>A | GRCh38 |
| NC_000005.9:g.156668672C>A , CM000667.1:g.156668672C>A | GRCh37 |
| NC_000005.8:g.156601250C>A | NCBI36 |
| NG_016276.1:g.65766C>A , LRG_189:g.65766C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.868C>A | ENSP00000513001.1:p.Pro290Thr | |
| ENST00000422843.8:c.1002C>A MANE Select | ENSP00000398655.4:p.Leu334= | |
| ENST00000422843.7:c.1002C>A | ENSP00000398655.3:p.Leu334= | |
| ENST00000519402.5:n.2587C>A | ||
| ENST00000519749.1:n.72C>A | ||
| ENST00000520173.1:n.120C>A | ||
| NM_005546.3:c.1002C>A , LRG_189t1:c.1002C>A | NP_005537.3:p.Leu334= | |
| XM_017009443.1:c.627C>A | XP_016864932.1:p.Leu209= | |
| NM_005546.4:c.1002C>A MANE Select | NP_005537.3:p.Leu334= |