Linked Data
MyVariant Identifiers:
chr1:g.161559590G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589800G>C , CM000663.2:g.161589800G>C | GRCh38 |
| NC_000001.10:g.161559590G>C , CM000663.1:g.161559590G>C | GRCh37 |
| NC_000001.9:g.159826214G>C | NCBI36 |
| NG_011982.1:g.13462G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40769C>G | ENSP00000514363.1:n.41-40769C>G | |
| ENST00000699403.1:c.61+40568C>G | ENSP00000514364.1:n.61+40568C>G | |
| ENST00000465075.6:n.464G>C | ||
| ENST00000466542.6:c.372G>C | ENSP00000426627.1:p.Val124= | |
| ENST00000473530.6:n.553G>C | ||
| ENST00000473712.6:n.394G>C | ||
| ENST00000482226.2:n.351G>C | ||
| ENST00000496692.6:n.468G>C | ||
| ENST00000543859.5:c.369G>C | ENSP00000444663.2:p.Val123= | |
| ENST00000611236.1:c.369G>C | ENSP00000480953.1:p.Val123= | |
| NR_047648.1:n.471G>C |