Linked Data
dbSNP Id:
rs772545354
ExAC:
1:161559473 C / T
gnomAD v2:
1-161559473-C-T
gnomAD v4:
1-161589683-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589683C>T , CM000663.2:g.161589683C>T | GRCh38 |
| NC_000001.10:g.161559473C>T , CM000663.1:g.161559473C>T | GRCh37 |
| NC_000001.9:g.159826097C>T | NCBI36 |
| NG_011982.1:g.13345C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40652G>A | ENSP00000514363.1:n.41-40652G>A | |
| ENST00000699403.1:c.61+40685G>A | ENSP00000514364.1:n.61+40685G>A | |
| ENST00000465075.6:n.347C>T | ||
| ENST00000466542.6:c.255C>T | ENSP00000426627.1:p.Phe85= | |
| ENST00000473530.6:n.436C>T | ||
| ENST00000473712.6:n.277C>T | ||
| ENST00000482226.2:n.234C>T | ||
| ENST00000496692.6:n.351C>T | ||
| ENST00000502411.5:n.552C>T | ||
| ENST00000543859.5:c.252C>T | ENSP00000444663.2:p.Phe84= | |
| ENST00000611236.1:c.252C>T | ENSP00000480953.1:p.Phe84= | |
| NR_047648.1:n.354C>T |