Linked Data
dbSNP Id:
rs113388806
ExAC:
16:24804954 A / T
gnomAD v2:
16-24804954-A-T
gnomAD v3:
16-24793633-A-T
gnomAD v4:
16-24793633-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.24793633A>T , CM000678.2:g.24793633A>T | GRCh38 |
| NC_000016.9:g.24804954A>T , CM000678.1:g.24804954A>T | GRCh37 |
| NC_000016.8:g.24712455A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395799.8:c.3336A>T MANE Select | ENSP00000379144.3:p.Gln1112His | |
| ENST00000315183.11:c.3336A>T | ENSP00000326900.7:p.Gln1112His | |
| ENST00000395799.7:c.3336A>T | ENSP00000379144.3:p.Gln1112His | |
| ENST00000450465.6:c.332-911A>T | ENSP00000404278.2:n.332-911A>T | |
| ENST00000491718.5:c.2983A>T | ||
| ENST00000567232.1:n.284A>T | ||
| ENST00000568903.5:n.289A>T | ||
| NM_014494.2:c.3336A>T | NP_055309.2:p.Gln1112His | |
| XM_005255254.2:c.3336A>T | XP_005255311.1:p.Gln1112His | |
| XM_005255257.3:c.2577A>T | XP_005255314.1:p.Gln859His | |
| XM_006721039.2:c.2910A>T | XP_006721102.1:p.Gln970His | |
| XM_011545791.1:c.3336A>T | XP_011544093.1:p.Gln1112His | |
| XM_011545792.1:c.3336A>T | XP_011544094.1:p.Gln1112His | |
| XM_011545793.1:c.3176-911A>T | XP_011544095.1:n.3176-911A>T | |
| XM_011545794.1:c.3176-911A>T | XP_011544096.1:n.3176-911A>T | |
| XM_011545795.1:c.3336A>T | XP_011544097.1:p.Gln1112His | |
| XM_011545796.1:c.3336A>T | XP_011544098.1:p.Gln1112His | |
| NM_001330520.2:c.3336A>T | NP_001317449.1:p.Gln1112His | |
| NM_001351850.1:c.3363A>T | NP_001338779.1:p.Gln1121His | |
| NM_014494.3:c.3336A>T | NP_055309.2:p.Gln1112His | |
| XM_005255257.4:c.2577A>T | XP_005255314.1:p.Gln859His | |
| XM_017023144.2:c.3363A>T | XP_016878633.1:p.Gln1121His | |
| XM_017023145.2:c.3363A>T | XP_016878634.1:p.Gln1121His | |
| XM_017023146.1:c.3288A>T | XP_016878635.1:p.Gln1096His | |
| XM_017023148.2:c.3203-911A>T | XP_016878637.1:n.3203-911A>T | |
| XM_017023150.2:c.3363A>T | XP_016878639.1:p.Gln1121His | |
| XM_017023152.2:c.2937A>T | XP_016878641.1:p.Gln979His | |
| XM_017023153.1:c.2577A>T | XP_016878642.1:p.Gln859His | |
| XM_017023154.1:c.2577A>T | XP_016878643.1:p.Gln859His | |
| XM_024450231.1:c.3363A>T | XP_024305999.1:p.Gln1121His | |
| XM_024450232.1:c.3363A>T | XP_024306000.1:p.Gln1121His | |
| XM_024450233.1:c.3203-911A>T | XP_024306001.1:n.3203-911A>T | |
| NM_014494.4:c.3336A>T MANE Select | NP_055309.2:p.Gln1112His | |
| NM_001330520.3:c.3336A>T | NP_001317449.1:p.Gln1112His | |
| NM_001351850.2:c.3363A>T | NP_001338779.1:p.Gln1121His |