Linked Data
dbSNP Id:
rs754322727
ExAC:
17:40695712 T / A
gnomAD v2:
17-40695712-T-A
gnomAD v4:
17-42543694-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543694T>A , CM000679.2:g.42543694T>A | GRCh38 |
| NC_000017.10:g.40695712T>A , CM000679.1:g.40695712T>A | GRCh37 |
| NC_000017.9:g.37949238T>A | NCBI36 |
| NG_011552.1:g.12762T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1688T>A MANE Select | ENSP00000225927.1:p.Leu563His | |
| ENST00000225927.6:c.1688T>A | ENSP00000225927.1:p.Leu563His | |
| ENST00000591587.1:c.1026T>A | ENSP00000467836.1:n.1026T>A | |
| NM_000263.3:c.1688T>A | NP_000254.2:p.Leu563His | |
| XM_006721920.2:c.857T>A | XP_006721983.1:p.Leu286His | |
| XM_011524840.1:c.689T>A | XP_011523142.1:p.Leu230His | |
| XM_017024687.1:c.857T>A | XP_016880176.1:p.Leu286His | |
| XM_024450771.1:c.1745T>A | XP_024306539.1:p.Leu582His | |
| XM_024450772.1:c.689T>A | XP_024306540.1:p.Leu230His | |
| NM_000263.4:c.1688T>A MANE Select | NP_000254.2:p.Leu563His |