Linked Data
MyVariant Identifiers:
chr1:g.206224624C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116707G>A , CM000663.2:g.206116707G>A | GRCh38 |
| NC_000001.10:g.206224624C>T , CM000663.1:g.206224624C>T | GRCh37 |
| NC_000001.9:g.204391247C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367126.5:c.184C>T MANE Select | ENSP00000356094.4:p.Leu62= | |
| ENST00000367126.4:c.184C>T | ENSP00000356094.4:p.Leu62= | |
| ENST00000612906.1:n.36+957C>T | ||
| NM_000707.3:c.184C>T | NP_000698.1:p.Leu62= | |
| NM_000707.4:c.184C>T | NP_000698.1:p.Leu62= | |
| NM_000707.5:c.184C>T MANE Select | NP_000698.1:p.Leu62= |