Linked Data
MyVariant Identifiers:
chr1:g.17349121G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022626G>A , CM000663.2:g.17022626G>A | GRCh38 |
| NC_000001.10:g.17349121G>A , CM000663.1:g.17349121G>A | GRCh37 |
| NC_000001.9:g.17221708G>A | NCBI36 |
| NG_012340.1:g.36545C>T , LRG_316:g.36545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.576C>T | ENSP00000481376.2:p.Cys192= | |
| ENST00000491274.6:c.705C>T | ENSP00000480482.2:p.Cys235= | |
| ENST00000375499.8:c.747C>T MANE Select | ENSP00000364649.3:p.Cys249= | |
| ENST00000375499.7:c.747C>T | ENSP00000364649.3:p.Cys249= | |
| ENST00000475049.5:n.172C>T | ||
| ENST00000485092.5:n.411C>T | ||
| ENST00000485515.5:n.681C>T | ||
| NM_003000.2:c.747C>T , LRG_316t1:c.747C>T | NP_002991.2:p.Cys249= | |
| NM_003000.3:c.747C>T MANE Select | NP_002991.2:p.Cys249= |