MyVariant.info:
GRCh37
chr15:g.45003364T>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000669 (AFR)
Genomes Max Group AF
0.00000802 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711166T>A , CM000677.2:g.44711166T>A | GRCh38 |
| NC_000015.9:g.45003364T>A , CM000677.1:g.45003364T>A | GRCh37 |
| NC_000015.8:g.42790656T>A | NCBI36 |
| NG_012920.1:g.4680T>A | |
| NG_012920.2:g.4690T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.-400A>T MANE Select | ENSP00000508024.1:n.-400A>T | |
| ENST00000558573.1:n.151A>T | ||
| XM_011521338.1:c.-400A>T | XP_011519640.1:n.-400A>T | |
| XM_011521339.1:c.-281A>T | XP_011519641.1:n.-281A>T | |
| XM_011521340.1:c.-222A>T | XP_011519642.1:n.-222A>T | |
| XM_011521343.1:c.-484A>T | XP_011519645.1:n.-484A>T | |
| XM_011521345.1:c.-455A>T | XP_011519647.1:n.-455A>T | |
| XM_011521338.3:c.-400A>T | XP_011519640.1:n.-400A>T | |
| XM_011521339.3:c.-281A>T | XP_011519641.1:n.-281A>T | |
| XM_011521340.3:c.-222A>T | XP_011519642.1:n.-222A>T | |
| XM_011521343.3:c.-484A>T | XP_011519645.1:n.-484A>T | |
| XM_011521345.3:c.-455A>T | XP_011519647.1:n.-455A>T | |
| NM_001387260.1:c.-76+166A>T | NP_001374189.1:n.-76+166A>T | |
| NM_001387261.1:c.-222A>T | NP_001374190.1:n.-222A>T | |
| NM_001387262.1:c.-490A>T | NP_001374191.1:n.-490A>T | |
| NM_001387263.1:c.-400A>T MANE Select | NP_001374192.1:n.-400A>T |