Linked Data
dbSNP Id:
rs4916
ExAC:
5:69372353 T / C
gnomAD v2:
5-69372353-T-C
gnomAD v3:
5-70076526-T-C
gnomAD v4:
5-70076526-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70076526T>C , CM000667.2:g.70076526T>C | GRCh38 |
| NC_000005.9:g.69372353T>C , CM000667.1:g.69372353T>C | GRCh37 |
| NC_000005.8:g.69408109T>C | NCBI36 |
| NG_008728.1:g.32004T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380743.9:c.840T>C MANE Select | ENSP00000370119.4:p.Phe280= | |
| ENST00000380741.8:c.840T>C | ENSP00000370117.5:p.Phe280= | |
| ENST00000380742.8:c.744T>C | ENSP00000370118.4:p.Phe248= | |
| ENST00000380743.8:c.840T>C | ENSP00000370119.4:p.Phe280= | |
| ENST00000505346.5:n.306T>C | ||
| ENST00000506734.5:c.*59-493T>C | ENSP00000424799.1:n.*59-493T>C | |
| ENST00000507458.2:c.94T>C | ||
| ENST00000511812.5:c.639T>C | ENSP00000424282.1:p.Phe213= | |
| ENST00000514914.1:n.381T>C | ||
| ENST00000614240.4:c.744T>C | ENSP00000479279.1:p.Phe248= | |
| ENST00000626847.2:c.835-493T>C | ENSP00000486152.1:n.835-493T>C | |
| NM_017411.3:c.840T>C | NP_059107.1:p.Phe280= | |
| NM_022875.2:c.835-493T>C | NP_075013.1:n.835-493T>C | |
| NM_022876.2:c.744T>C | NP_075014.1:p.Phe248= | |
| NM_022877.2:c.739-493T>C | NP_075015.1:n.739-493T>C | |
| XM_011543600.1:c.639T>C | XP_011541902.1:p.Phe213= | |
| XM_011543601.1:c.634-493T>C | XP_011541903.1:n.634-493T>C | |
| XM_011543602.1:c.543T>C | XP_011541904.1:p.Phe181= | |
| XM_011543603.1:c.538-493T>C | XP_011541905.1:n.538-493T>C | |
| XR_948432.1:n.1054+88522T>C | ||
| XM_011543600.2:c.639T>C | XP_011541902.1:p.Phe213= | |
| XM_011543602.3:c.543T>C | XP_011541904.1:p.Phe181= | |
| XM_011543603.3:c.538-493T>C | XP_011541905.1:n.538-493T>C | |
| NM_017411.4:c.840T>C MANE Select | NP_059107.1:p.Phe280= | |
| NM_022875.3:c.835-493T>C | NP_075013.1:n.835-493T>C |