Linked Data
dbSNP Id:
rs761687550
ExAC:
16:16244614 C / A
gnomAD v2:
16-16244614-C-A
gnomAD v4:
16-16150757-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150757C>A , CM000678.2:g.16150757C>A | GRCh38 |
| NC_000016.9:g.16244614C>A , CM000678.1:g.16244614C>A | GRCh37 |
| NC_000016.8:g.16152115C>A | NCBI36 |
| NG_007558.2:g.77715G>T | |
| NG_007558.3:g.77861G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*396G>T | ENSP00000483331.2:n.*396G>T | |
| ENST00000205557.12:c.4224G>T MANE Select | ENSP00000205557.7:p.Gln1408His | |
| ENST00000640696.1:c.1038G>T | ENSP00000492197.1:p.Gln346His | |
| ENST00000205557.11:c.4224G>T | ENSP00000205557.7:p.Gln1408His | |
| ENST00000456970.6:c.3849G>T | ENSP00000405002.2:n.3849G>T | |
| ENST00000576204.5:n.1087G>T | ||
| ENST00000622290.4:c.*1433G>T | ENSP00000483331.1:n.*1433G>T | |
| NM_001171.5:c.4224G>T | NP_001162.4:p.Gln1408His | |
| XM_011522479.1:c.4191G>T | XP_011520781.1:p.Gln1397His | |
| XM_011522480.1:c.3882G>T | XP_011520782.1:p.Gln1294His | |
| XM_011522481.1:c.3882G>T | XP_011520783.1:p.Gln1294His | |
| XR_933134.1:n.538+6467C>A | ||
| NM_001351800.1:c.3882G>T | NP_001338729.1:p.Gln1294His | |
| NR_147784.1:n.3886G>T | ||
| XM_011522479.2:c.4191G>T | XP_011520781.1:p.Gln1397His | |
| XM_011522481.3:c.3882G>T | XP_011520783.1:p.Gln1294His | |
| XM_017023212.1:c.4056G>T | XP_016878701.1:p.Gln1352His | |
| XM_024450261.1:c.4260G>T | XP_024306029.1:p.Gln1420His | |
| NM_001171.6:c.4224G>T MANE Select | NP_001162.5:p.Gln1408His |