Linked Data
MyVariant Identifiers:
chr20:g.3838437C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857790C>A , CM000682.2:g.3857790C>A | GRCh38 |
| NC_000020.10:g.3838437C>A , CM000682.1:g.3838437C>A | GRCh37 |
| NC_000020.9:g.3786437C>A | NCBI36 |
| NG_030028.1:g.15992C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.273C>A MANE Select | ENSP00000401980.2:p.Val91= | |
| ENST00000416600.6:c.-132+3049C>A | ENSP00000413749.2:n.-132+3049C>A | |
| ENST00000428216.3:c.273C>A | ENSP00000401980.2:p.Val91= | |
| NM_001206491.1:c.-132+3049C>A | NP_001193420.1:n.-132+3049C>A | |
| NM_020746.4:c.273C>A | NP_065797.2:p.Val91= | |
| NR_037921.1:n.445C>A | ||
| NM_020746.5:c.273C>A MANE Select | NP_065797.2:p.Val91= | |
| NR_037921.2:n.410C>A | ||
| NM_001206491.2:c.-132+3049C>A | NP_001193420.1:n.-132+3049C>A | |
| NM_001385663.1:c.-275C>A | NP_001372592.1:n.-275C>A |