Linked Data
dbSNP Id:
rs4732513
gnomAD v2:
7-75607608-C-T
gnomAD v3:
7-75978290-C-T
gnomAD v4:
7-75978290-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75978290C>T , CM000669.2:g.75978290C>T | GRCh38 |
| NC_000007.13:g.75607608C>T , CM000669.1:g.75607608C>T | GRCh37 |
| NC_000007.12:g.75445544C>T | NCBI36 |
| NG_008930.1:g.68189C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475509.2:c.13-1161C>T | ENSP00000516446.1:n.13-1161C>T | |
| ENST00000706544.1:c.238-1161C>T | ENSP00000516442.1:n.238-1161C>T | |
| ENST00000706545.1:c.238-1161C>T | ENSP00000516443.1:n.238-1161C>T | |
| ENST00000706546.1:c.238-1161C>T | ENSP00000516444.1:n.238-1161C>T | |
| ENST00000706547.1:c.238-1161C>T | ENSP00000516445.1:n.238-1161C>T | |
| ENST00000461988.6:c.238-1161C>T MANE Select | ENSP00000419970.1:n.238-1161C>T | |
| ENST00000394893.5:c.238-1161C>T | ENSP00000378355.1:n.238-1161C>T | |
| ENST00000412064.6:c.238-1161C>T | ENSP00000404731.2:n.238-1161C>T | |
| ENST00000412521.5:c.238-1161C>T | ENSP00000409238.1:n.238-1161C>T | |
| ENST00000414186.5:c.238-1161C>T | ENSP00000399327.1:n.238-1161C>T | |
| ENST00000426184.1:c.97-1161C>T | ENSP00000400964.1:n.97-1161C>T | |
| ENST00000432753.5:c.238-1161C>T | ENSP00000389409.1:n.238-1161C>T | |
| ENST00000439297.1:c.77-1161C>T | ENSP00000403494.1:n.77-1161C>T | |
| ENST00000439963.5:c.238-1161C>T | ENSP00000390540.1:n.238-1161C>T | |
| ENST00000447222.5:c.155-1161C>T | ||
| ENST00000448410.5:c.*235-1161C>T | ENSP00000399409.1:n.*235-1161C>T | |
| ENST00000453773.5:c.238-1161C>T | ENSP00000395813.1:n.238-1161C>T | |
| ENST00000454934.5:c.238-1161C>T | ENSP00000414263.1:n.238-1161C>T | |
| ENST00000461988.5:c.238-1161C>T | ENSP00000419970.1:n.238-1161C>T | |
| ENST00000471238.5:n.265-1161C>T | ||
| ENST00000475509.1:n.440-1161C>T | ||
| NM_000941.2:c.238-1161C>T | NP_000932.3:n.238-1161C>T | |
| NM_000941.3:c.238-1161C>T | NP_000932.3:n.238-1161C>T | |
| NM_001367562.1:c.238-1161C>T | NP_001354491.1:n.238-1161C>T | |
| NM_001382655.1:c.292-1161C>T | NP_001369584.1:n.292-1161C>T | |
| NM_001382657.1:c.238-1161C>T | NP_001369586.1:n.238-1161C>T | |
| NM_001382658.1:c.238-1161C>T | NP_001369587.1:n.238-1161C>T | |
| NM_001382659.1:c.238-1161C>T | NP_001369588.1:n.238-1161C>T | |
| NM_001382662.1:c.238-1161C>T | NP_001369591.1:n.238-1161C>T | |
| NM_001367562.3:c.229-1161C>T | NP_001354491.2:n.229-1161C>T | |
| NM_001382655.3:c.283-1161C>T | NP_001369584.2:n.283-1161C>T | |
| NM_001382657.2:c.229-1161C>T | NP_001369586.2:n.229-1161C>T | |
| NM_001382658.3:c.229-1161C>T | NP_001369587.2:n.229-1161C>T | |
| NM_001382659.3:c.229-1161C>T | NP_001369588.2:n.229-1161C>T | |
| NM_001382662.3:c.229-1161C>T | NP_001369591.2:n.229-1161C>T | |
| NM_001395413.1:c.229-1161C>T MANE Select | NP_001382342.1:n.229-1161C>T |