Linked Data
MyVariant Identifiers:
chr20:g.60503435T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928377T>C , CM000682.2:g.61928377T>C | GRCh38 |
| NC_000020.10:g.60503435T>C , CM000682.1:g.60503435T>C | GRCh37 |
| NC_000020.9:g.59936830T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1959T>C MANE Select | ENSP00000484928.1:p.Phe653= | |
| ENST00000543233.2:c.1737T>C | ENSP00000443301.1:p.Phe579= | |
| ENST00000611855.4:c.1677T>C | ENSP00000480844.1:p.Phe559= | |
| ENST00000614565.4:c.1959T>C | ENSP00000484928.1:p.Phe653= | |
| NM_001252338.2:c.1848T>C | NP_001239267.1:p.Phe616= | |
| NM_001252339.2:c.1737T>C | NP_001239268.1:p.Phe579= | |
| NM_001794.4:c.1959T>C | NP_001785.2:p.Phe653= | |
| NM_001794.5:c.1959T>C MANE Select | NP_001785.2:p.Phe653= | |
| NM_001252339.3:c.1737T>C | NP_001239268.1:p.Phe579= |