Linked Data
ClinVar Variation Id:
1034604
ClinVar RCV Id:
RCV001337349
dbSNP Id:
rs753791407
ExAC:
5:125912775 G / A
gnomAD v2:
5-125912775-G-A
gnomAD v4:
5-126577083-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577083G>A , CM000667.2:g.126577083G>A | GRCh38 |
| NC_000005.9:g.125912775G>A , CM000667.1:g.125912775G>A | GRCh37 |
| NC_000005.8:g.125940674G>A | NCBI36 |
| NG_008600.2:g.23308C>T | |
| NG_008600.3:g.23308C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.646C>T MANE Select | ENSP00000387123.3:p.Leu216Phe | |
| ENST00000412186.2:c.522C>T | ENSP00000414536.2:n.522C>T | |
| ENST00000413020.6:c.646C>T | ENSP00000487936.1:p.Leu216Phe | |
| ENST00000458249.6:c.*555C>T | ENSP00000403929.1:n.*555C>T | |
| ENST00000503281.6:c.235C>T | ||
| ENST00000509270.2:c.580C>T | ||
| ENST00000509459.6:c.194C>T | ||
| ENST00000511266.6:n.1368C>T | ||
| ENST00000635851.1:c.644C>T | ||
| ENST00000636062.1:n.541C>T | ||
| ENST00000636225.1:c.*455C>T | ENSP00000490797.1:n.*455C>T | |
| ENST00000636286.1:n.364C>T | ||
| ENST00000636743.1:c.526C>T | ENSP00000489725.1:p.Leu176Phe | |
| ENST00000636808.1:c.*455C>T | ENSP00000490833.1:n.*455C>T | |
| ENST00000636872.1:c.806C>T | ENSP00000490919.1:n.806C>T | |
| ENST00000636879.1:c.691C>T | ENSP00000490811.1:p.Leu231Phe | |
| ENST00000636886.1:c.445C>T | ENSP00000490371.1:p.Leu149Phe | |
| ENST00000637206.1:c.646C>T | ENSP00000489895.1:p.Leu216Phe | |
| ENST00000637272.1:c.646C>T | ENSP00000489686.1:p.Leu216Phe | |
| ENST00000637292.1:c.299C>T | ||
| ENST00000637782.1:c.646C>T | ENSP00000490024.1:p.Leu216Phe | |
| ENST00000637964.1:c.592C>T | ENSP00000490291.1:p.Leu198Phe | |
| ENST00000638008.1:c.*588C>T | ENSP00000490400.1:n.*588C>T | |
| ENST00000409134.7:c.646C>T | ENSP00000387123.3:p.Leu216Phe | |
| ENST00000413020.5:c.646C>T | ENSP00000487936.1:p.Leu216Phe | |
| ENST00000433026.5:n.173C>T | ||
| ENST00000447989.6:c.727C>T | ENSP00000414132.2:p.Leu243Phe | |
| ENST00000458249.5:c.806C>T | ENSP00000403929.1:n.806C>T | |
| ENST00000503281.5:c.235C>T | ||
| ENST00000509459.5:c.194C>T | ||
| ENST00000510111.6:c.559C>T | ENSP00000447388.1:p.Leu187Phe | |
| ENST00000511266.5:n.477C>T | ||
| ENST00000553117.5:c.646C>T | ENSP00000448593.1:p.Leu216Phe | |
| NM_001182.4:c.646C>T | NP_001173.2:p.Leu216Phe | |
| NM_001201377.1:c.562C>T | NP_001188306.1:p.Leu188Phe | |
| NM_001202404.1:c.727C>T | NP_001189333.1:p.Leu243Phe | |
| XM_011543417.1:c.241C>T | XP_011541719.1:p.Leu81Phe | |
| XM_011543417.2:c.241C>T | XP_011541719.1:p.Leu81Phe | |
| NM_001182.5:c.646C>T MANE Select | NP_001173.2:p.Leu216Phe | |
| NM_001201377.2:c.562C>T | NP_001188306.1:p.Leu188Phe | |
| NM_001202404.2:c.646C>T | NP_001189333.2:p.Leu216Phe |