Linked Data
MyVariant Identifiers:
chr14:g.23312623T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843414T>A , CM000676.2:g.22843414T>A | GRCh38 |
| NC_000014.8:g.23312623T>A , CM000676.1:g.23312623T>A | GRCh37 |
| NC_000014.7:g.22382463T>A | NCBI36 |
| NG_046989.1:g.11882T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.846T>A MANE Select | ENSP00000308208.6:p.Leu282= | |
| ENST00000548162.2:c.846T>A | ENSP00000506068.1:p.Leu282= | |
| ENST00000680097.1:c.*161T>A | ENSP00000506631.1:n.*161T>A | |
| ENST00000680941.1:c.*244T>A | ENSP00000506378.1:n.*244T>A | |
| ENST00000311852.10:c.846T>A | ENSP00000308208.6:p.Leu282= | |
| ENST00000548162.1:n.1088T>A | ||
| NM_004995.3:c.846T>A | NP_004986.1:p.Leu282= | |
| NM_004995.4:c.846T>A MANE Select | NP_004986.1:p.Leu282= |