Linked Data
MyVariant Identifiers:
chr1:g.17672544C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17346049C>T , CM000663.2:g.17346049C>T | GRCh38 |
| NC_000001.10:g.17672544C>T , CM000663.1:g.17672544C>T | GRCh37 |
| NC_000001.9:g.17545131C>T | NCBI36 |
| NG_023261.2:g.42860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.957C>T MANE Select | ENSP00000364597.4:p.Phe319= | |
| ENST00000468945.1:n.16C>T | ||
| NM_012387.2:c.957C>T | NP_036519.2:p.Phe319= | |
| XM_011541150.1:c.771C>T | XP_011539452.1:p.Phe257= | |
| XM_011541151.1:c.957C>T | XP_011539453.1:p.Phe319= | |
| XM_011541152.1:c.420C>T | XP_011539454.1:p.Phe140= | |
| XM_011541153.1:c.957C>T | XP_011539455.1:p.Phe319= | |
| XM_011541154.1:c.957C>T | XP_011539456.1:p.Phe319= | |
| XM_011541155.1:c.957C>T | XP_011539457.1:p.Phe319= | |
| XM_011541156.1:c.957C>T | XP_011539458.1:p.Phe319= | |
| XM_011541157.1:c.66C>T | XP_011539459.1:p.Phe22= | |
| XM_011541154.2:c.957C>T | XP_011539456.1:p.Phe319= | |
| NM_012387.3:c.957C>T MANE Select | NP_036519.2:p.Phe319= |