Linked Data
ClinVar Variation Id:
256838
dbSNP Id:
rs2286822
ExAC:
7:75614288 C / T
gnomAD v2:
7-75614288-C-T
gnomAD v3:
7-75984970-C-T
gnomAD v4:
7-75984970-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75984970C>T , CM000669.2:g.75984970C>T | GRCh38 |
| NC_000007.13:g.75614288C>T , CM000669.1:g.75614288C>T | GRCh37 |
| NC_000007.12:g.75452224C>T | NCBI36 |
| NG_008930.1:g.74869C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475509.2:c.1023+12C>T | ENSP00000516446.1:n.1023+12C>T | |
| ENST00000706544.1:c.1149+12C>T | ENSP00000516442.1:n.1149+12C>T | |
| ENST00000706545.1:c.1248+12C>T | ENSP00000516443.1:n.1248+12C>T | |
| ENST00000706546.1:c.1248+12C>T | ENSP00000516444.1:n.1248+12C>T | |
| ENST00000706547.1:c.1248+12C>T | ENSP00000516445.1:n.1248+12C>T | |
| ENST00000461988.6:c.1248+12C>T MANE Select | ENSP00000419970.1:n.1248+12C>T | |
| ENST00000394893.5:c.1248+12C>T | ENSP00000378355.1:n.1248+12C>T | |
| ENST00000412064.6:c.*109-1090C>T | ENSP00000404731.2:n.*109-1090C>T | |
| ENST00000439269.1:c.462+12C>T | ENSP00000412490.1:n.462+12C>T | |
| ENST00000447222.5:c.1399+12C>T | ||
| ENST00000454934.5:c.*553+12C>T | ENSP00000414263.1:n.*553+12C>T | |
| ENST00000461988.5:c.1248+12C>T | ENSP00000419970.1:n.1248+12C>T | |
| ENST00000487247.5:n.603+12C>T | ||
| ENST00000495770.1:n.250+12C>T | ||
| ENST00000496888.5:n.622+12C>T | ||
| NM_000941.2:c.1248+12C>T | NP_000932.3:n.1248+12C>T | |
| NM_000941.3:c.1248+12C>T | NP_000932.3:n.1248+12C>T | |
| NM_001367562.1:c.1248+12C>T | NP_001354491.1:n.1248+12C>T | |
| NM_001382655.1:c.1302+12C>T | NP_001369584.1:n.1302+12C>T | |
| NM_001382657.1:c.1248+12C>T | NP_001369586.1:n.1248+12C>T | |
| NM_001382658.1:c.1248+12C>T | NP_001369587.1:n.1248+12C>T | |
| NM_001382659.1:c.1248+12C>T | NP_001369588.1:n.1248+12C>T | |
| NM_001382662.1:c.1248+12C>T | NP_001369591.1:n.1248+12C>T | |
| NM_001367562.3:c.1239+12C>T | NP_001354491.2:n.1239+12C>T | |
| NM_001382655.3:c.1293+12C>T | NP_001369584.2:n.1293+12C>T | |
| NM_001382657.2:c.1239+12C>T | NP_001369586.2:n.1239+12C>T | |
| NM_001382658.3:c.1239+12C>T | NP_001369587.2:n.1239+12C>T | |
| NM_001382659.3:c.1239+12C>T | NP_001369588.2:n.1239+12C>T | |
| NM_001382662.3:c.1239+12C>T | NP_001369591.2:n.1239+12C>T | |
| NM_001395413.1:c.1239+12C>T MANE Select | NP_001382342.1:n.1239+12C>T |