Linked Data
dbSNP Id:
rs781794995
ExAC:
7:75615112 C / G
gnomAD v2:
7-75615112-C-G
gnomAD v4:
7-75985794-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75985794C>G , CM000669.2:g.75985794C>G | GRCh38 |
| NC_000007.13:g.75615112C>G , CM000669.1:g.75615112C>G | GRCh37 |
| NC_000007.12:g.75453048C>G | NCBI36 |
| NG_008930.1:g.75693C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.1389C>G | ENSP00000516446.1:p.Thr463= | |
| ENST00000706544.1:c.1515C>G | ENSP00000516442.1:p.Thr505= | |
| ENST00000706545.1:c.1614C>G | ENSP00000516443.1:p.Thr538= | |
| ENST00000706546.1:c.1614C>G | ENSP00000516444.1:p.Thr538= | |
| ENST00000706547.1:c.1614C>G | ENSP00000516445.1:p.Thr538= | |
| ENST00000461988.6:c.1614C>G MANE Select | ENSP00000419970.1:p.Thr538= | |
| ENST00000394893.5:c.1614C>G | ENSP00000378355.1:p.Thr538= | |
| ENST00000412064.6:c.*109-266C>G | ENSP00000404731.2:n.*109-266C>G | |
| ENST00000439269.1:c.828C>G | ENSP00000412490.1:p.Thr276= | |
| ENST00000447222.5:c.1765C>G | ||
| ENST00000454934.5:c.*919C>G | ENSP00000414263.1:n.*919C>G | |
| ENST00000461988.5:c.1614C>G | ENSP00000419970.1:p.Thr538= | |
| ENST00000493973.1:n.225C>G | ||
| NM_000941.2:c.1614C>G | NP_000932.3:p.Thr538= | |
| NM_000941.3:c.1614C>G | NP_000932.3:p.Thr538= | |
| NM_001367562.1:c.1614C>G | NP_001354491.1:p.Thr538= | |
| NM_001382655.1:c.1668C>G | NP_001369584.1:p.Thr556= | |
| NM_001382657.1:c.1614C>G | NP_001369586.1:p.Thr538= | |
| NM_001382658.1:c.1614C>G | NP_001369587.1:p.Thr538= | |
| NM_001382659.1:c.1614C>G | NP_001369588.1:p.Thr538= | |
| NM_001382662.1:c.1464C>G | NP_001369591.1:p.Thr488= | |
| NM_001367562.3:c.1605C>G | NP_001354491.2:p.Thr535= | |
| NM_001382655.3:c.1659C>G | NP_001369584.2:p.Thr553= | |
| NM_001382657.2:c.1605C>G | NP_001369586.2:p.Thr535= | |
| NM_001382658.3:c.1605C>G | NP_001369587.2:p.Thr535= | |
| NM_001382659.3:c.1605C>G | NP_001369588.2:p.Thr535= | |
| NM_001382662.3:c.1455C>G | NP_001369591.2:p.Thr485= | |
| NM_001395413.1:c.1605C>G MANE Select | NP_001382342.1:p.Thr535= |