Linked Data
MyVariant Identifiers:
chr9:g.137300066C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408220C>A , CM000671.2:g.134408220C>A | GRCh38 |
| NC_000009.11:g.137300066C>A , CM000671.1:g.137300066C>A | GRCh37 |
| NC_000009.10:g.136439887C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.351C>A MANE Select | ENSP00000419692.1:p.Leu117= | |
| ENST00000672570.1:c.270C>A | ENSP00000500402.1:p.Leu90= | |
| ENST00000356384.4:n.761C>A | ||
| ENST00000481739.1:c.351C>A | ENSP00000419692.1:p.Leu117= | |
| NM_001291920.1:c.270C>A | NP_001278849.1:p.Leu90= | |
| NM_001291921.1:c.60C>A | NP_001278850.1:p.Leu20= | |
| NM_002957.5:c.351C>A | NP_002948.1:p.Leu117= | |
| NM_002957.6:c.351C>A MANE Select | NP_002948.1:p.Leu117= | |
| NM_001291921.2:c.60C>A | NP_001278850.1:p.Leu20= | |
| NM_001291920.2:c.270C>A | NP_001278849.1:p.Leu90= |