Linked Data
dbSNP Id:
rs769452104
ExAC:
15:50534758 T / A
gnomAD v2:
15-50534758-T-A
gnomAD v4:
15-50242561-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242561T>A , CM000677.2:g.50242561T>A | GRCh38 |
| NC_000015.9:g.50534758T>A , CM000677.1:g.50534758T>A | GRCh37 |
| NC_000015.8:g.48322050T>A | NCBI36 |
| NG_027487.1:g.28405A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1688A>T MANE Select | ENSP00000267845.3:p.His563Leu | |
| ENST00000267845.7:c.1688A>T | ENSP00000267845.3:p.His563Leu | |
| ENST00000543581.5:c.1589A>T | ENSP00000440252.1:p.His530Leu | |
| ENST00000559816.1:n.1432A>T | ||
| NM_001306146.1:c.1589A>T | NP_001293075.1:p.His530Leu | |
| NM_002112.3:c.1688A>T | NP_002103.2:p.His563Leu | |
| XM_011521479.1:c.1451A>T | XP_011519781.1:p.His484Leu | |
| XM_011521480.1:c.1256A>T | XP_011519782.1:p.His419Leu | |
| XM_017022094.1:c.1793A>T | XP_016877583.1:p.His598Leu | |
| XM_017022095.1:c.1694A>T | XP_016877584.1:p.His565Leu | |
| XM_017022096.1:c.1565A>T | XP_016877585.1:p.His522Leu | |
| XM_017022097.1:c.1556A>T | XP_016877586.1:p.His519Leu | |
| XM_017022098.1:c.1361A>T | XP_016877587.1:p.His454Leu | |
| NM_002112.4:c.1688A>T MANE Select | NP_002103.2:p.His563Leu | |
| NM_001306146.2:c.1589A>T | NP_001293075.1:p.His530Leu |