Linked Data
dbSNP Id:
rs757146073
ExAC:
2:73799959 A / T
gnomAD v2:
2-73799959-A-T
gnomAD v4:
2-73572832-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572832A>T , CM000664.2:g.73572832A>T | GRCh38 |
| NC_000002.11:g.73799959A>T , CM000664.1:g.73799959A>T | GRCh37 |
| NC_000002.10:g.73653467A>T | NCBI36 |
| NG_011690.1:g.192080A>T , LRG_741:g.192080A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10574A>T | ENSP00000507671.1:p.Asp3525Val | |
| ENST00000682801.1:c.10574A>T | ENSP00000507862.1:p.Asp3525Val | |
| ENST00000682859.1:c.10574A>T | ENSP00000508222.1:p.Asp3525Val | |
| ENST00000683791.1:c.3660A>T | ||
| ENST00000684460.1:c.7855A>T | ||
| ENST00000684548.1:c.10574A>T | ENSP00000507421.1:p.Asp3525Val | |
| ENST00000684590.1:c.5021A>T | ENSP00000507376.1:p.Asp1674Val | |
| ENST00000684656.1:c.7900A>T | ||
| ENST00000613296.6:c.10955A>T MANE Select | ENSP00000482968.1:p.Asp3652Val | |
| ENST00000651057.1:c.1109A>T | ENSP00000498504.1:p.Asp370Val | |
| ENST00000651434.1:c.2311A>T | ||
| ENST00000651750.1:c.343A>T | ||
| ENST00000652487.1:c.2052A>T | ||
| ENST00000423048.5:c.4446A>T | ENSP00000399833.1:n.4446A>T | |
| ENST00000484298.5:c.10829A>T | ENSP00000478155.1:p.Asp3610Val | |
| ENST00000613296.4:c.10955A>T | ENSP00000482968.1:p.Asp3652Val | |
| ENST00000614410.4:c.10955A>T | ENSP00000479094.1:p.Asp3652Val | |
| ENST00000620466.4:n.4758A>T | ||
| NM_015120.4:c.10958A>T , LRG_741t1:c.10958A>T | NP_055935.4:p.Asp3653Val | |
| NM_001378454.1:c.10955A>T MANE Select | NP_001365383.1:p.Asp3652Val |