Linked Data
ClinVar Variation Id:
2063877
ClinVar RCV Id:
RCV002943033
dbSNP Id:
rs200249978
ExAC:
7:75614218 C / T
gnomAD v2:
7-75614218-C-T
gnomAD v3:
7-75984900-C-T
gnomAD v4:
7-75984900-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75984900C>T , CM000669.2:g.75984900C>T | GRCh38 |
| NC_000007.13:g.75614218C>T , CM000669.1:g.75614218C>T | GRCh37 |
| NC_000007.12:g.75452154C>T | NCBI36 |
| NG_008930.1:g.74799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.965C>T | ENSP00000516446.1:p.Ser322Leu | |
| ENST00000706544.1:c.1091C>T | ENSP00000516442.1:p.Ser364Leu | |
| ENST00000706545.1:c.1190C>T | ENSP00000516443.1:p.Ser397Leu | |
| ENST00000706546.1:c.1190C>T | ENSP00000516444.1:p.Ser397Leu | |
| ENST00000706547.1:c.1190C>T | ENSP00000516445.1:p.Ser397Leu | |
| ENST00000461988.6:c.1190C>T MANE Select | ENSP00000419970.1:p.Ser397Leu | |
| ENST00000394893.5:c.1190C>T | ENSP00000378355.1:p.Ser397Leu | |
| ENST00000412064.6:c.*109-1160C>T | ENSP00000404731.2:n.*109-1160C>T | |
| ENST00000439269.1:c.404C>T | ENSP00000412490.1:p.Ser135Leu | |
| ENST00000447222.5:c.1341C>T | ||
| ENST00000454934.5:c.*495C>T | ENSP00000414263.1:n.*495C>T | |
| ENST00000461988.5:c.1190C>T | ENSP00000419970.1:p.Ser397Leu | |
| ENST00000487247.5:n.545C>T | ||
| ENST00000495770.1:n.192C>T | ||
| ENST00000496888.5:n.564C>T | ||
| NM_000941.2:c.1190C>T | NP_000932.3:p.Ser397Leu | |
| NM_000941.3:c.1190C>T | NP_000932.3:p.Ser397Leu | |
| NM_001367562.1:c.1190C>T | NP_001354491.1:p.Ser397Leu | |
| NM_001382655.1:c.1244C>T | NP_001369584.1:p.Ser415Leu | |
| NM_001382657.1:c.1190C>T | NP_001369586.1:p.Ser397Leu | |
| NM_001382658.1:c.1190C>T | NP_001369587.1:p.Ser397Leu | |
| NM_001382659.1:c.1190C>T | NP_001369588.1:p.Ser397Leu | |
| NM_001382662.1:c.1190C>T | NP_001369591.1:p.Ser397Leu | |
| NM_001367562.3:c.1181C>T | NP_001354491.2:p.Ser394Leu | |
| NM_001382655.3:c.1235C>T | NP_001369584.2:p.Ser412Leu | |
| NM_001382657.2:c.1181C>T | NP_001369586.2:p.Ser394Leu | |
| NM_001382658.3:c.1181C>T | NP_001369587.2:p.Ser394Leu | |
| NM_001382659.3:c.1181C>T | NP_001369588.2:p.Ser394Leu | |
| NM_001382662.3:c.1181C>T | NP_001369591.2:p.Ser394Leu | |
| NM_001395413.1:c.1181C>T MANE Select | NP_001382342.1:p.Ser394Leu |