Linked Data
MyVariant Identifiers:
chr1:g.15772136C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445641C>G , CM000663.2:g.15445641C>G | GRCh38 |
| NC_000001.10:g.15772136C>G , CM000663.1:g.15772136C>G | GRCh37 |
| NC_000001.9:g.15644723C>G | NCBI36 |
| NG_009253.1:g.12199C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.684C>G MANE Select | ENSP00000365116.4:p.Ser228= | |
| ENST00000375943.6:c.*138C>G | ENSP00000365110.2:n.*138C>G | |
| ENST00000375949.4:c.684C>G | ENSP00000365116.4:p.Ser228= | |
| ENST00000483406.1:n.448C>G | ||
| NM_007272.2:c.684C>G | NP_009203.2:p.Ser228= | |
| XM_011540550.1:c.538C>G | XP_011538852.1:p.Leu180Val | |
| NM_007272.3:c.684C>G MANE Select | NP_009203.2:p.Ser228= |