Linked Data
ClinVar Variation Id:
353307
dbSNP Id:
rs146939026
ExAC:
5:36608604 C / T
gnomAD v2:
5-36608604-C-T
gnomAD v3:
5-36608502-C-T
gnomAD v4:
5-36608502-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36608502C>T , CM000667.2:g.36608502C>T | GRCh38 |
| NC_000005.9:g.36608604C>T , CM000667.1:g.36608604C>T | GRCh37 |
| NC_000005.8:g.36644361C>T | NCBI36 |
| NG_015890.1:g.7148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265113.9:c.79C>T MANE Select | ENSP00000265113.4:p.Leu27Phe | |
| ENST00000381918.4:c.79C>T | ENSP00000371343.4:p.Leu27Phe | |
| ENST00000502864.6:n.314C>T | ||
| ENST00000612708.5:c.79C>T | ENSP00000483657.1:p.Leu27Phe | |
| ENST00000613445.5:c.79C>T | ENSP00000477672.1:p.Leu27Phe | |
| ENST00000679423.1:c.79C>T | ENSP00000505306.1:p.Leu27Phe | |
| ENST00000679784.1:c.79C>T | ENSP00000506030.1:p.Leu27Phe | |
| ENST00000679958.1:c.79C>T | ENSP00000505246.1:p.Leu27Phe | |
| ENST00000679983.1:c.79C>T | ENSP00000505238.1:p.Leu27Phe | |
| ENST00000679992.1:c.79C>T | ENSP00000506585.1:p.Leu27Phe | |
| ENST00000680048.1:c.79C>T | ENSP00000505296.1:p.Leu27Phe | |
| ENST00000680064.1:n.445C>T | ||
| ENST00000680125.1:c.79C>T | ENSP00000506424.1:p.Leu27Phe | |
| ENST00000680205.1:n.445C>T | ||
| ENST00000680212.1:n.174C>T | ||
| ENST00000680232.1:c.79C>T | ENSP00000506207.1:p.Leu27Phe | |
| ENST00000680318.1:c.79C>T | ENSP00000505057.1:p.Leu27Phe | |
| ENST00000680527.1:c.79C>T | ENSP00000504868.1:p.Leu27Phe | |
| ENST00000680655.1:c.79C>T | ENSP00000506436.1:p.Leu27Phe | |
| ENST00000680711.1:n.287C>T | ||
| ENST00000680876.1:n.445C>T | ||
| ENST00000680878.1:n.445C>T | ||
| ENST00000680908.1:c.79C>T | ENSP00000505338.1:p.Leu27Phe | |
| ENST00000681633.1:n.445C>T | ||
| ENST00000681775.1:n.314C>T | ||
| ENST00000681776.1:c.79C>T | ENSP00000506165.1:p.Leu27Phe | |
| ENST00000681795.1:c.-36+1767C>T | ENSP00000505679.1:n.-36+1767C>T | |
| ENST00000681814.1:n.194C>T | ||
| ENST00000681848.1:n.174C>T | ||
| ENST00000681909.1:c.79C>T | ENSP00000506599.1:p.Leu27Phe | |
| ENST00000681926.1:c.79C>T | ENSP00000505850.1:p.Leu27Phe | |
| ENST00000265113.8:c.79C>T | ENSP00000265113.4:p.Leu27Phe | |
| ENST00000381918.3:c.79C>T | ENSP00000371343.3:p.Leu27Phe | |
| ENST00000416645.6:n.293C>T | ||
| ENST00000502864.5:n.13C>T | ||
| ENST00000504121.5:n.387C>T | ||
| ENST00000505202.5:c.79C>T | ENSP00000424986.1:p.Leu27Phe | |
| ENST00000506725.1:n.293C>T | ||
| ENST00000512374.1:n.299C>T | ||
| ENST00000513646.1:c.79C>T | ENSP00000420992.1:p.Leu27Phe | |
| ENST00000513903.5:c.79C>T | ENSP00000427203.1:p.Leu27Phe | |
| ENST00000612708.4:c.79C>T | ENSP00000483657.1:p.Leu27Phe | |
| ENST00000613445.4:c.79C>T | ENSP00000477672.1:p.Leu27Phe | |
| NM_001166695.2:c.79C>T | NP_001160167.1:p.Leu27Phe | |
| NM_001166696.2:c.79C>T | NP_001160168.1:p.Leu27Phe | |
| NM_001289939.1:c.79C>T | NP_001276868.1:p.Leu27Phe | |
| NM_001289940.1:c.79C>T | NP_001276869.1:p.Leu27Phe | |
| NM_004172.4:c.79C>T | NP_004163.3:p.Leu27Phe | |
| XM_005248342.1:c.79C>T | XP_005248399.1:p.Leu27Phe | |
| XM_011514084.1:c.-345C>T | XP_011512386.1:n.-345C>T | |
| XM_005248342.3:c.79C>T | XP_005248399.1:p.Leu27Phe | |
| XM_011514084.2:c.-345C>T | XP_011512386.1:n.-345C>T | |
| XM_024446181.1:c.79C>T | XP_024301949.1:p.Leu27Phe | |
| XM_024446182.1:c.79C>T | XP_024301950.1:p.Leu27Phe | |
| NM_004172.5:c.79C>T MANE Select | NP_004163.3:p.Leu27Phe | |
| NM_001166695.3:c.79C>T | NP_001160167.1:p.Leu27Phe | |
| NM_001166696.3:c.79C>T | NP_001160168.1:p.Leu27Phe | |
| NM_001289939.2:c.79C>T | NP_001276868.1:p.Leu27Phe | |
| NM_001289940.2:c.79C>T | NP_001276869.1:p.Leu27Phe |