Linked Data
dbSNP Id:
rs503464
gnomAD v2:
15-78857896-T-A
gnomAD v3:
15-78565554-T-A
gnomAD v4:
15-78565554-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78565554T>A , CM000677.2:g.78565554T>A | GRCh38 |
| NC_000015.9:g.78857896T>A , CM000677.1:g.78857896T>A | GRCh37 |
| NC_000015.8:g.76644951T>A | NCBI36 |
| NG_023328.1:g.5035T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299565.9:c.-166T>A MANE Select | ENSP00000299565.5:n.-166T>A | |
| NM_000745.3:c.-166T>A | NP_000736.2:n.-166T>A | |
| NM_001307945.1:c.-166T>A | NP_001294874.1:n.-166T>A | |
| XM_005254142.2:c.-166T>A | XP_005254199.1:n.-166T>A | |
| NM_001307945.2:c.-166T>A | NP_001294874.1:n.-166T>A | |
| NM_000745.4:c.-166T>A MANE Select | NP_000736.2:n.-166T>A | |
| NM_001395171.1:c.-166T>A | NP_001382100.1:n.-166T>A | |
| NM_001395172.1:c.-166T>A | NP_001382101.1:n.-166T>A | |
| NM_001395173.1:c.-166T>A | NP_001382102.1:n.-166T>A | |
| NM_001395174.1:c.-166T>A | NP_001382103.1:n.-166T>A | |
| NM_001395175.1:c.-166T>A | NP_001382104.1:n.-166T>A |