Linked Data
dbSNP Id:
rs1052206950
gnomAD v2:
2-241515264-C-T
gnomAD v3:
2-240575847-C-T
gnomAD v4:
2-240575847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240575847C>T , CM000664.2:g.240575847C>T | GRCh38 |
| NC_000002.11:g.241515264C>T , CM000664.1:g.241515264C>T | GRCh37 |
| NC_000002.10:g.241163937C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270357.10:c.1510+237C>T MANE Select | ENSP00000270357.4:n.1510+237C>T | |
| ENST00000270357.8:c.817+237C>T | ENSP00000270357.3:n.817+237C>T | |
| ENST00000437406.1:c.109+237C>T | ENSP00000403319.1:n.109+237C>T | |
| ENST00000451363.5:c.151+237C>T | ENSP00000414661.1:n.151+237C>T | |
| ENST00000464550.5:n.346+237C>T | ||
| ENST00000471657.1:n.313+237C>T | ||
| ENST00000481757.5:n.1757C>T | ||
| ENST00000486058.5:n.1623+237C>T | ||
| ENST00000493398.5:n.656+237C>T | ||
| NM_018226.4:c.1510+237C>T | NP_060696.4:n.1510+237C>T | |
| XM_005247036.3:c.1510+237C>T | XP_005247093.1:n.1510+237C>T | |
| NM_018226.5:c.1510+237C>T | NP_060696.4:n.1510+237C>T | |
| XM_005247036.4:c.1510+237C>T | XP_005247093.1:n.1510+237C>T | |
| NM_018226.6:c.1510+237C>T MANE Select | NP_060696.4:n.1510+237C>T |