Linked Data
dbSNP Id:
rs1452854810
gnomAD v2:
1-165389159-G-A
gnomAD v4:
1-165419922-G-A
COSMIC:
COSM3965992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165419922G>A , CM000663.2:g.165419922G>A | GRCh38 |
| NC_000001.10:g.165389159G>A , CM000663.1:g.165389159G>A | GRCh37 |
| NC_000001.9:g.163655783G>A | NCBI36 |
| NG_029517.1:g.30434C>T | |
| NG_029517.2:g.30434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359842.10:c.390C>T MANE Select | ENSP00000352900.5:p.Ser130= | |
| ENST00000359842.9:c.390C>T | ENSP00000352900.5:p.Ser130= | |
| ENST00000470566.1:n.315C>T | ||
| ENST00000619224.1:c.21C>T | ENSP00000482458.1:p.Ser7= | |
| NM_001256570.1:c.21C>T | NP_001243499.1:p.Ser7= | |
| NM_001256571.1:c.21C>T | NP_001243500.1:p.Ser7= | |
| NM_006917.4:c.390C>T | NP_008848.1:p.Ser130= | |
| NM_006917.5:c.390C>T MANE Select | NP_008848.1:p.Ser130= | |
| NM_001256571.2:c.21C>T | NP_001243500.1:p.Ser7= | |
| NM_001256570.2:c.21C>T | NP_001243499.1:p.Ser7= |