Linked Data
dbSNP Id:
rs374084646
ExAC:
17:41150737 A / T
gnomAD v2:
17-41150737-A-T
gnomAD v3:
17-42998720-A-T
gnomAD v4:
17-42998720-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42998720A>T , CM000679.2:g.42998720A>T | GRCh38 |
| NC_000017.10:g.41150737A>T , CM000679.1:g.41150737A>T | GRCh37 |
| NC_000017.9:g.38404263A>T | NCBI36 |
| NG_053099.1:g.5448A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253788.12:c.-2-29A>T MANE Select | ENSP00000253788.5:n.-2-29A>T | |
| ENST00000589913.6:c.-31A>T | ENSP00000464813.1:n.-31A>T | |
| ENST00000590864.2:c.-31A>T | ENSP00000467939.2:n.-31A>T | |
| ENST00000253788.9:c.-2-29A>T | ENSP00000253788.4:n.-2-29A>T | |
| ENST00000587478.1:n.54-29A>T | ||
| ENST00000588830.1:c.-2-29A>T | ENSP00000468468.1:n.-2-29A>T | |
| ENST00000589037.5:c.-2-29A>T | ENSP00000467587.1:n.-2-29A>T | |
| ENST00000589913.5:c.-31A>T | ENSP00000464813.1:n.-31A>T | |
| ENST00000593262.1:n.302A>T | ||
| NM_000988.3:c.-2-29A>T | NP_000979.1:n.-2-29A>T | |
| NM_000988.5:c.-2-29A>T MANE Select | NP_000979.1:n.-2-29A>T | |
| NM_001349921.1:c.-2-29A>T | NP_001336850.1:n.-2-29A>T | |
| NM_001349922.1:c.-31A>T | NP_001336851.1:n.-31A>T | |
| NR_146327.1:n.82-29A>T | ||
| NM_001349921.2:c.-2-29A>T | NP_001336850.1:n.-2-29A>T | |
| NM_001349922.2:c.-31A>T | NP_001336851.1:n.-31A>T | |
| NR_146327.2:n.54-29A>T |