Linked Data
ClinVar Variation Id:
2651397
ClinVar RCV Id:
RCV003436187
dbSNP Id:
rs1390459414
gnomAD v2:
2-145157412-G-A
gnomAD v4:
2-144399845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144399845G>A , CM000664.2:g.144399845G>A | GRCh38 |
| NC_000002.11:g.145157412G>A , CM000664.1:g.145157412G>A | GRCh37 |
| NC_000002.10:g.144873882G>A | NCBI36 |
| NG_016431.1:g.125547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*1191C>T | ENSP00000508434.1:n.*1191C>T | |
| ENST00000440875.6:c.565C>T | ENSP00000475553.3:p.Leu189Phe | |
| ENST00000627532.3:c.1342C>T MANE Select | ENSP00000487174.1:p.Leu448Phe | |
| ENST00000636026.2:c.1342C>T | ENSP00000490776.1:p.Leu448Phe | |
| ENST00000636179.1:n.1311C>T | ||
| ENST00000636413.1:c.1006C>T | ENSP00000490508.1:p.Leu336Phe | |
| ENST00000636471.1:c.1417C>T | ENSP00000490317.1:p.Leu473Phe | |
| ENST00000636732.2:c.*1059C>T | ENSP00000490175.1:n.*1059C>T | |
| ENST00000636820.1:n.1442C>T | ||
| ENST00000637045.1:c.1006C>T | ENSP00000490141.1:p.Leu336Phe | |
| ENST00000637267.2:c.1342C>T | ENSP00000490293.2:p.Leu448Phe | |
| ENST00000637304.1:c.1006C>T | ENSP00000490872.1:p.Leu336Phe | |
| ENST00000638007.1:c.1006C>T | ENSP00000490723.1:p.Leu336Phe | |
| ENST00000638087.1:c.1006C>T | ENSP00000490673.1:p.Leu336Phe | |
| ENST00000638128.1:c.565C>T | ENSP00000490934.1:p.Leu189Phe | |
| ENST00000675069.1:c.-133-995C>T | ENSP00000502467.1:n.-133-995C>T | |
| ENST00000675145.1:n.1890C>T | ||
| ENST00000303660.8:c.1339C>T | ENSP00000302501.4:p.Leu447Phe | |
| ENST00000409487.7:c.1342C>T | ENSP00000386854.2:p.Leu448Phe | |
| ENST00000419938.5:c.655+1354C>T | ENSP00000394777.2:n.655+1354C>T | |
| ENST00000427902.5:c.1429C>T | ENSP00000395496.2:p.Leu477Phe | |
| ENST00000440875.5:c.1153+174C>T | ENSP00000475553.2:n.1153+174C>T | |
| ENST00000539609.7:c.1270C>T | ENSP00000443792.2:p.Leu424Phe | |
| ENST00000558170.6:c.1342C>T | ENSP00000454157.1:p.Leu448Phe | |
| ENST00000627532.2:c.1342C>T | ENSP00000487174.1:p.Leu448Phe | |
| NM_001171653.1:c.1270C>T | NP_001165124.1:p.Leu424Phe | |
| NM_014795.3:c.1342C>T | NP_055610.1:p.Leu448Phe | |
| XM_006712881.2:c.1342C>T | XP_006712944.1:p.Leu448Phe | |
| XM_006712882.2:c.1342C>T | XP_006712945.1:p.Leu448Phe | |
| XM_011512231.1:c.1333C>T | XP_011510533.1:p.Leu445Phe | |
| XM_011512232.1:c.1321C>T | XP_011510534.1:p.Leu441Phe | |
| NM_014795.4:c.1342C>T MANE Select | NP_055610.1:p.Leu448Phe | |
| NM_001171653.2:c.1270C>T | NP_001165124.1:p.Leu424Phe |