Linked Data
dbSNP Id:
rs751223510
gnomAD v2:
1-161559542-C-T
gnomAD v3:
1-161589752-C-T
gnomAD v4:
1-161589752-C-T
COSMIC:
COSN228520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589752C>T , CM000663.2:g.161589752C>T | GRCh38 |
| NC_000001.10:g.161559542C>T , CM000663.1:g.161559542C>T | GRCh37 |
| NC_000001.9:g.159826166C>T | NCBI36 |
| NG_011982.1:g.13414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40721G>A | ENSP00000514363.1:n.41-40721G>A | |
| ENST00000699403.1:c.61+40616G>A | ENSP00000514364.1:n.61+40616G>A | |
| ENST00000465075.6:n.416C>T | ||
| ENST00000466542.6:c.324C>T | ENSP00000426627.1:p.Ser108= | |
| ENST00000473530.6:n.505C>T | ||
| ENST00000473712.6:n.346C>T | ||
| ENST00000482226.2:n.303C>T | ||
| ENST00000496692.6:n.420C>T | ||
| ENST00000543859.5:c.321C>T | ENSP00000444663.2:p.Ser107= | |
| ENST00000611236.1:c.321C>T | ENSP00000480953.1:p.Ser107= | |
| NR_047648.1:n.423C>T |