Linked Data
dbSNP Id:
rs767642908
ExAC:
1:161559404 C / T
gnomAD v2:
1-161559404-C-T
gnomAD v3:
1-161589614-C-T
gnomAD v4:
1-161589614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589614C>T , CM000663.2:g.161589614C>T | GRCh38 |
| NC_000001.10:g.161559404C>T , CM000663.1:g.161559404C>T | GRCh37 |
| NC_000001.9:g.159826028C>T | NCBI36 |
| NG_011982.1:g.13276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40583G>A | ENSP00000514363.1:n.41-40583G>A | |
| ENST00000699403.1:c.61+40754G>A | ENSP00000514364.1:n.61+40754G>A | |
| ENST00000465075.6:n.278C>T | ||
| ENST00000466542.6:c.186C>T | ENSP00000426627.1:p.Leu62= | |
| ENST00000473530.6:n.367C>T | ||
| ENST00000473712.6:n.208C>T | ||
| ENST00000482226.2:n.165C>T | ||
| ENST00000496692.6:n.282C>T | ||
| ENST00000502411.5:n.483C>T | ||
| ENST00000543859.5:c.183C>T | ENSP00000444663.2:p.Leu61= | |
| ENST00000611236.1:c.183C>T | ENSP00000480953.1:p.Leu61= | |
| NR_047648.1:n.285C>T |