Linked Data
ClinVar Variation Id:
319504
dbSNP Id:
rs752471076
ExAC:
16:50813940 C / T
gnomAD v2:
16-50813940-C-T
gnomAD v3:
16-50780029-C-T
gnomAD v4:
16-50780029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50780029C>T , CM000678.2:g.50780029C>T | GRCh38 |
| NC_000016.9:g.50813940C>T , CM000678.1:g.50813940C>T | GRCh37 |
| NC_000016.8:g.49371441C>T | NCBI36 |
| NG_012061.1:g.42980C>T , LRG_491:g.42980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427738.8:c.1503C>T MANE Select | ENSP00000392025.3:p.Leu501= | |
| ENST00000311559.13:c.1503C>T | ENSP00000308928.9:p.Leu501= | |
| ENST00000398568.6:c.1494C>T | ENSP00000381574.2:p.Leu498= | |
| ENST00000427738.7:c.1503C>T | ENSP00000392025.3:p.Leu501= | |
| ENST00000563629.1:n.1230C>T | ||
| ENST00000564326.5:c.1494C>T | ENSP00000454515.1:p.Leu498= | |
| ENST00000566206.5:c.1494C>T | ENSP00000462134.1:p.Leu498= | |
| ENST00000568704.2:c.1129+2088C>T | ENSP00000456488.2:n.1129+2088C>T | |
| ENST00000569418.5:c.1494C>T | ENSP00000457576.1:p.Leu498= | |
| ENST00000569891.5:n.1889C>T | ||
| NM_001042355.1:c.1494C>T | NP_001035814.1:p.Leu498= | |
| NM_001042412.1:c.1494C>T | NP_001035877.1:p.Leu498= | |
| NM_015247.2:c.1503C>T , LRG_491t1:c.1503C>T | NP_056062.1:p.Leu501= | |
| XM_005255812.2:c.1494C>T | XP_005255869.1:p.Leu498= | |
| XM_006721149.1:c.1494C>T | XP_006721212.1:p.Leu498= | |
| XM_011522906.1:c.1494C>T | XP_011521208.1:p.Leu498= | |
| XM_011522907.1:c.1494C>T | XP_011521209.1:p.Leu498= | |
| XM_011522908.1:c.1464C>T | XP_011521210.1:p.Leu488= | |
| XM_011522909.1:c.1494C>T | XP_011521211.1:p.Leu498= | |
| XM_011522910.1:c.1494C>T | XP_011521212.1:p.Leu498= | |
| XM_011522911.1:c.1494C>T | XP_011521213.1:p.Leu498= | |
| XR_933218.1:n.1787C>T | ||
| XM_011522907.2:c.1494C>T | XP_011521209.1:p.Leu498= | |
| XM_011522911.2:c.1494C>T | XP_011521213.1:p.Leu498= | |
| XM_017022977.1:c.1494C>T | XP_016878466.1:p.Leu498= | |
| XM_017022978.1:c.1494C>T | XP_016878467.1:p.Leu498= | |
| XM_017022979.1:c.1494C>T | XP_016878468.1:p.Leu498= | |
| XM_017022980.1:c.1494C>T | XP_016878469.1:p.Leu498= | |
| XM_017022981.2:c.1464C>T | XP_016878470.1:p.Leu488= | |
| XR_001751849.1:n.1787C>T | ||
| NM_001042355.2:c.1494C>T | NP_001035814.1:p.Leu498= | |
| NM_001042412.2:c.1494C>T | NP_001035877.1:p.Leu498= | |
| NM_001042412.3:c.1494C>T | NP_001035877.1:p.Leu498= | |
| NM_001378743.1:c.1503C>T MANE Select | NP_001365672.1:p.Leu501= | |
| NM_001378744.1:c.1494C>T | NP_001365673.1:p.Leu498= | |
| NM_001378745.1:c.1494C>T | NP_001365674.1:p.Leu498= | |
| NM_001378746.1:c.1494C>T | NP_001365675.1:p.Leu498= | |
| NM_001378747.1:c.1494C>T | NP_001365676.1:p.Leu498= | |
| NM_001378748.1:c.1494C>T | NP_001365677.1:p.Leu498= | |
| NM_001378749.1:c.1494C>T | NP_001365678.1:p.Leu498= | |
| NM_001378750.1:c.1494C>T | NP_001365679.1:p.Leu498= | |
| NM_001378751.1:c.1464C>T | NP_001365680.1:p.Leu488= | |
| NM_001378752.1:c.1464C>T | NP_001365681.1:p.Leu488= | |
| NM_001378753.1:c.1464C>T | NP_001365682.1:p.Leu488= | |
| NM_001378754.1:c.828C>T | NP_001365683.1:p.Leu276= | |
| NM_001378755.1:c.828C>T | NP_001365684.1:p.Leu276= | |
| NM_015247.3:c.1503C>T | NP_056062.1:p.Leu501= | |
| NR_166071.1:n.1758C>T |