Linked Data
MyVariant Identifiers:
chr12:g.11421048G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11268114G>A , CM000674.2:g.11268114G>A | GRCh38 |
| NC_000012.11:g.11421048G>A , CM000674.1:g.11421048G>A | GRCh37 |
| NC_000012.10:g.11312315G>A | NCBI36 |
| NG_013305.2:g.6594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538488.3:c.135C>T MANE Select | ENSP00000442626.2:p.Asn45= | |
| ENST00000381842.7:c.135C>T | ENSP00000371264.3:p.Asn45= | |
| ENST00000538488.2:c.135C>T | ENSP00000442626.2:p.Asn45= | |
| ENST00000539835.1:n.142C>T | ||
| NM_006249.5:c.135C>T | NP_006240.4:p.Asn45= | |
| NM_001394862.1:c.135C>T MANE Select | NP_001381791.1:p.Asn45= |