Linked Data
dbSNP Id:
rs114945036
gnomAD v2:
1-161559256-C-T
gnomAD v3:
1-161589466-C-T
gnomAD v4:
1-161589466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589466C>T , CM000663.2:g.161589466C>T | GRCh38 |
| NC_000001.10:g.161559256C>T , CM000663.1:g.161559256C>T | GRCh37 |
| NC_000001.9:g.159825880C>T | NCBI36 |
| NG_011982.1:g.13128C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699402.1:c.41-40435G>A | ENSP00000514363.1:n.41-40435G>A | |
| ENST00000699403.1:c.62-40788G>A | ENSP00000514364.1:n.62-40788G>A | |
| ENST00000465075.6:n.226-96C>T | ||
| ENST00000466542.6:c.134-96C>T | ENSP00000426627.1:n.134-96C>T | |
| ENST00000473530.6:n.315-96C>T | ||
| ENST00000473712.6:n.156-96C>T | ||
| ENST00000482226.2:n.116-99C>T | ||
| ENST00000496692.6:n.233-99C>T | ||
| ENST00000502411.5:n.431-96C>T | ||
| ENST00000543859.5:c.134-96C>T | ENSP00000444663.2:n.134-96C>T | |
| ENST00000611236.1:c.134-96C>T | ENSP00000480953.1:n.134-96C>T | |
| NR_047648.1:n.233-96C>T |