Linked Data
dbSNP Id:
rs747283626
ExAC:
2:73799488 A / T
gnomAD v2:
2-73799488-A-T
gnomAD v4:
2-73572361-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572361A>T , CM000664.2:g.73572361A>T | GRCh38 |
| NC_000002.11:g.73799488A>T , CM000664.1:g.73799488A>T | GRCh37 |
| NC_000002.10:g.73652996A>T | NCBI36 |
| NG_011690.1:g.191609A>T , LRG_741:g.191609A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10103A>T | ENSP00000507671.1:p.Asp3368Val | |
| ENST00000682801.1:c.10103A>T | ENSP00000507862.1:p.Asp3368Val | |
| ENST00000682859.1:c.10103A>T | ENSP00000508222.1:p.Asp3368Val | |
| ENST00000683791.1:c.3189A>T | ||
| ENST00000684460.1:c.7384A>T | ||
| ENST00000684548.1:c.10103A>T | ENSP00000507421.1:p.Asp3368Val | |
| ENST00000684590.1:c.4550A>T | ENSP00000507376.1:p.Asp1517Val | |
| ENST00000684656.1:c.7429A>T | ||
| ENST00000613296.6:c.10484A>T MANE Select | ENSP00000482968.1:p.Asp3495Val | |
| ENST00000651057.1:c.638A>T | ENSP00000498504.1:p.Asp213Val | |
| ENST00000651434.1:c.1840A>T | ||
| ENST00000652487.1:c.1581A>T | ||
| ENST00000423048.5:c.3975A>T | ENSP00000399833.1:n.3975A>T | |
| ENST00000484298.5:c.10358A>T | ENSP00000478155.1:p.Asp3453Val | |
| ENST00000613296.4:c.10484A>T | ENSP00000482968.1:p.Asp3495Val | |
| ENST00000614410.4:c.10484A>T | ENSP00000479094.1:p.Asp3495Val | |
| ENST00000620466.4:n.4287A>T | ||
| NM_015120.4:c.10487A>T , LRG_741t1:c.10487A>T | NP_055935.4:p.Asp3496Val | |
| NM_001378454.1:c.10484A>T MANE Select | NP_001365383.1:p.Asp3495Val |