Linked Data
dbSNP Id:
rs782465768
ExAC:
7:75614251 T / C
gnomAD v2:
7-75614251-T-C
gnomAD v4:
7-75984933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75984933T>C , CM000669.2:g.75984933T>C | GRCh38 |
| NC_000007.13:g.75614251T>C , CM000669.1:g.75614251T>C | GRCh37 |
| NC_000007.12:g.75452187T>C | NCBI36 |
| NG_008930.1:g.74832T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.998T>C | ENSP00000516446.1:p.Met333Thr | |
| ENST00000706544.1:c.1124T>C | ENSP00000516442.1:p.Met375Thr | |
| ENST00000706545.1:c.1223T>C | ENSP00000516443.1:p.Met408Thr | |
| ENST00000706546.1:c.1223T>C | ENSP00000516444.1:p.Met408Thr | |
| ENST00000706547.1:c.1223T>C | ENSP00000516445.1:p.Met408Thr | |
| ENST00000461988.6:c.1223T>C MANE Select | ENSP00000419970.1:p.Met408Thr | |
| ENST00000394893.5:c.1223T>C | ENSP00000378355.1:p.Met408Thr | |
| ENST00000412064.6:c.*109-1127T>C | ENSP00000404731.2:n.*109-1127T>C | |
| ENST00000439269.1:c.437T>C | ENSP00000412490.1:p.Met146Thr | |
| ENST00000447222.5:c.1374T>C | ||
| ENST00000454934.5:c.*528T>C | ENSP00000414263.1:n.*528T>C | |
| ENST00000461988.5:c.1223T>C | ENSP00000419970.1:p.Met408Thr | |
| ENST00000487247.5:n.578T>C | ||
| ENST00000495770.1:n.225T>C | ||
| ENST00000496888.5:n.597T>C | ||
| NM_000941.2:c.1223T>C | NP_000932.3:p.Met408Thr | |
| NM_000941.3:c.1223T>C | NP_000932.3:p.Met408Thr | |
| NM_001367562.1:c.1223T>C | NP_001354491.1:p.Met408Thr | |
| NM_001382655.1:c.1277T>C | NP_001369584.1:p.Met426Thr | |
| NM_001382657.1:c.1223T>C | NP_001369586.1:p.Met408Thr | |
| NM_001382658.1:c.1223T>C | NP_001369587.1:p.Met408Thr | |
| NM_001382659.1:c.1223T>C | NP_001369588.1:p.Met408Thr | |
| NM_001382662.1:c.1223T>C | NP_001369591.1:p.Met408Thr | |
| NM_001367562.3:c.1214T>C | NP_001354491.2:p.Met405Thr | |
| NM_001382655.3:c.1268T>C | NP_001369584.2:p.Met423Thr | |
| NM_001382657.2:c.1214T>C | NP_001369586.2:p.Met405Thr | |
| NM_001382658.3:c.1214T>C | NP_001369587.2:p.Met405Thr | |
| NM_001382659.3:c.1214T>C | NP_001369588.2:p.Met405Thr | |
| NM_001382662.3:c.1214T>C | NP_001369591.2:p.Met405Thr | |
| NM_001395413.1:c.1214T>C MANE Select | NP_001382342.1:p.Met405Thr |