Linked Data
dbSNP Id:
rs1295143326
gnomAD v2:
2-241515359-C-A
gnomAD v3:
2-240575942-C-A
gnomAD v4:
2-240575942-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240575942C>A , CM000664.2:g.240575942C>A | GRCh38 |
| NC_000002.11:g.241515359C>A , CM000664.1:g.241515359C>A | GRCh37 |
| NC_000002.10:g.241164032C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270357.10:c.1510+332C>A MANE Select | ENSP00000270357.4:n.1510+332C>A | |
| ENST00000270357.8:c.817+332C>A | ENSP00000270357.3:n.817+332C>A | |
| ENST00000437406.1:c.109+332C>A | ENSP00000403319.1:n.109+332C>A | |
| ENST00000451363.5:c.151+332C>A | ENSP00000414661.1:n.151+332C>A | |
| ENST00000464550.5:n.346+332C>A | ||
| ENST00000471657.1:n.313+332C>A | ||
| ENST00000481757.5:n.1852C>A | ||
| ENST00000486058.5:n.1623+332C>A | ||
| ENST00000493398.5:n.656+332C>A | ||
| NM_018226.4:c.1510+332C>A | NP_060696.4:n.1510+332C>A | |
| XM_005247036.3:c.1510+332C>A | XP_005247093.1:n.1510+332C>A | |
| NM_018226.5:c.1510+332C>A | NP_060696.4:n.1510+332C>A | |
| XM_005247036.4:c.1510+332C>A | XP_005247093.1:n.1510+332C>A | |
| NM_018226.6:c.1510+332C>A MANE Select | NP_060696.4:n.1510+332C>A |