Linked Data
MyVariant Identifiers:
chr6:g.52051247C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52186449C>A , CM000668.2:g.52186449C>A | GRCh38 |
| NC_000006.11:g.52051247C>A , CM000668.1:g.52051247C>A | GRCh37 |
| NC_000006.10:g.52159206C>A | NCBI36 |
| NG_033021.1:g.5063C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648244.1:c.18C>A MANE Select | ENSP00000497968.1:p.Thr6= | |
| ENST00000340057.1:c.18C>A | ENSP00000344192.1:p.Thr6= | |
| NM_002190.2:c.18C>A | NP_002181.1:p.Thr6= | |
| NM_002190.3:c.18C>A MANE Select | NP_002181.1:p.Thr6= |