Linked Data
MyVariant Identifiers:
chr5:g.1213632C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213517C>A , CM000667.2:g.1213517C>A | GRCh38 |
| NC_000005.9:g.1213632C>A , CM000667.1:g.1213632C>A | GRCh37 |
| NC_000005.8:g.1266632C>A | NCBI36 |
| NG_008282.1:g.16923C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.718C>A MANE Select | ENSP00000305302.10:p.Arg240= | |
| ENST00000304460.10:c.718C>A | ENSP00000305302.10:p.Arg240= | |
| ENST00000515652.5:c.626C>A | ENSP00000425701.1:p.Pro209Gln | |
| NM_001003841.2:c.718C>A | NP_001003841.1:p.Arg240= | |
| NM_001003841.3:c.718C>A MANE Select | NP_001003841.1:p.Arg240= |