Linked Data
dbSNP Id:
rs753078890
ExAC:
17:61555323 C / T
gnomAD v2:
17-61555323-C-T
gnomAD v3:
17-63477962-C-T
gnomAD v4:
17-63477962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63477962C>T , CM000679.2:g.63477962C>T | GRCh38 |
| NC_000017.10:g.61555323C>T , CM000679.1:g.61555323C>T | GRCh37 |
| NC_000017.9:g.58909055C>T | NCBI36 |
| NG_011648.1:g.5890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.281C>T MANE Select | ENSP00000290866.4:p.Ala94Val | |
| ENST00000290866.9:c.281C>T | ENSP00000290866.4:p.Ala94Val | |
| ENST00000428043.5:c.281C>T | ENSP00000397593.2:p.Ala94Val | |
| ENST00000579462.1:n.306C>T | ||
| ENST00000580318.1:n.470C>T | ||
| ENST00000582627.1:c.281C>T | ENSP00000462280.1:p.Ala94Val | |
| ENST00000582678.5:c.281C>T | ENSP00000462995.1:p.Ala94Val | |
| ENST00000583336.5:n.315C>T | ||
| ENST00000584529.5:n.315C>T | ||
| NM_000789.3:c.281C>T | NP_000780.1:p.Ala94Val | |
| XM_005257110.1:c.-175C>T | XP_005257167.1:n.-175C>T | |
| NM_000789.4:c.281C>T MANE Select | NP_000780.1:p.Ala94Val | |
| NM_001382700.1:c.46C>T | NP_001369629.1:p.Arg16Trp | |
| NM_001382701.1:c.-334C>T | NP_001369630.1:n.-334C>T |