Linked Data
ClinVar Variation Id:
2040336
ClinVar RCV Id:
RCV002912476
dbSNP Id:
rs1554556319
gnomAD v2:
7-75601758-T-G
gnomAD v4:
7-75972440-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75972440T>G , CM000669.2:g.75972440T>G | GRCh38 |
| NC_000007.13:g.75601758T>G , CM000669.1:g.75601758T>G | GRCh37 |
| NC_000007.12:g.75439694T>G | NCBI36 |
| NG_008930.1:g.62339T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.-10T>G | ENSP00000516446.1:n.-10T>G | |
| ENST00000706544.1:c.216T>G | ENSP00000516442.1:p.Phe72Leu | |
| ENST00000706545.1:c.216T>G | ENSP00000516443.1:p.Phe72Leu | |
| ENST00000706546.1:c.216T>G | ENSP00000516444.1:p.Phe72Leu | |
| ENST00000706547.1:c.216T>G | ENSP00000516445.1:p.Phe72Leu | |
| ENST00000461988.6:c.216T>G MANE Select | ENSP00000419970.1:p.Phe72Leu | |
| ENST00000394893.5:c.216T>G | ENSP00000378355.1:p.Phe72Leu | |
| ENST00000412064.6:c.216T>G | ENSP00000404731.2:p.Phe72Leu | |
| ENST00000412521.5:c.216T>G | ENSP00000409238.1:p.Phe72Leu | |
| ENST00000414186.5:c.216T>G | ENSP00000399327.1:p.Phe72Leu | |
| ENST00000426184.1:c.75T>G | ENSP00000400964.1:p.Phe25Leu | |
| ENST00000432753.5:c.216T>G | ENSP00000389409.1:p.Phe72Leu | |
| ENST00000439297.1:c.55T>G | ENSP00000403494.1:p.Cys19Gly | |
| ENST00000439963.5:c.216T>G | ENSP00000390540.1:p.Phe72Leu | |
| ENST00000447222.5:c.133T>G | ||
| ENST00000448410.5:c.216T>G | ENSP00000399409.1:p.Phe72Leu | |
| ENST00000453773.5:c.216T>G | ENSP00000395813.1:p.Phe72Leu | |
| ENST00000454934.5:c.216T>G | ENSP00000414263.1:p.Phe72Leu | |
| ENST00000461988.5:c.216T>G | ENSP00000419970.1:p.Phe72Leu | |
| ENST00000471238.5:n.243T>G | ||
| ENST00000475509.1:n.418T>G | ||
| NM_000941.2:c.216T>G | NP_000932.3:p.Phe72Leu | |
| NM_000941.3:c.216T>G | NP_000932.3:p.Phe72Leu | |
| NM_001367562.1:c.216T>G | NP_001354491.1:p.Phe72Leu | |
| NM_001382655.1:c.270T>G | NP_001369584.1:p.Phe90Leu | |
| NM_001382657.1:c.216T>G | NP_001369586.1:p.Phe72Leu | |
| NM_001382658.1:c.216T>G | NP_001369587.1:p.Phe72Leu | |
| NM_001382659.1:c.216T>G | NP_001369588.1:p.Phe72Leu | |
| NM_001382662.1:c.216T>G | NP_001369591.1:p.Phe72Leu | |
| NM_001367562.3:c.207T>G | NP_001354491.2:p.Phe69Leu | |
| NM_001382655.3:c.261T>G | NP_001369584.2:p.Phe87Leu | |
| NM_001382657.2:c.207T>G | NP_001369586.2:p.Phe69Leu | |
| NM_001382658.3:c.207T>G | NP_001369587.2:p.Phe69Leu | |
| NM_001382659.3:c.207T>G | NP_001369588.2:p.Phe69Leu | |
| NM_001382662.3:c.207T>G | NP_001369591.2:p.Phe69Leu | |
| NM_001395413.1:c.207T>G MANE Select | NP_001382342.1:p.Phe69Leu |