Linked Data
ClinVar Variation Id:
433434
dbSNP Id:
rs368465318
ExAC:
16:16263555 C / A
gnomAD v2:
16-16263555-C-A
gnomAD v3:
16-16169698-C-A
gnomAD v4:
16-16169698-C-A
PubMed:
PMID:18157818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169698C>A , CM000678.2:g.16169698C>A | GRCh38 |
| NC_000016.9:g.16263555C>A , CM000678.1:g.16263555C>A | GRCh37 |
| NC_000016.8:g.16171056C>A | NCBI36 |
| NG_007558.2:g.58774G>T | |
| NG_007558.3:g.58920G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2943G>T | ENSP00000483331.2:p.Gln981His | |
| ENST00000205557.12:c.2943G>T MANE Select | ENSP00000205557.7:p.Gln981His | |
| ENST00000205557.11:c.2943G>T | ENSP00000205557.7:p.Gln981His | |
| ENST00000456970.6:c.2768G>T | ENSP00000405002.2:n.2768G>T | |
| ENST00000622290.4:c.*152G>T | ENSP00000483331.1:n.*152G>T | |
| NM_001171.5:c.2943G>T | NP_001162.4:p.Gln981His | |
| XM_011522479.1:c.2910G>T | XP_011520781.1:p.Gln970His | |
| XM_011522480.1:c.2601G>T | XP_011520782.1:p.Gln867His | |
| XM_011522481.1:c.2601G>T | XP_011520783.1:p.Gln867His | |
| XR_932836.1:n.3178G>T | ||
| XR_932837.1:n.3179G>T | ||
| XR_932838.1:n.3179G>T | ||
| NM_001351800.1:c.2601G>T | NP_001338729.1:p.Gln867His | |
| NR_147784.1:n.2805G>T | ||
| XM_011522479.2:c.2910G>T | XP_011520781.1:p.Gln970His | |
| XM_011522481.3:c.2601G>T | XP_011520783.1:p.Gln867His | |
| XM_017023212.1:c.2775G>T | XP_016878701.1:p.Gln925His | |
| XM_017023214.1:c.2943G>T | XP_016878703.1:p.Gln981His | |
| XM_024450261.1:c.2979G>T | XP_024306029.1:p.Gln993His | |
| XR_932836.2:n.3124G>T | ||
| XR_932837.3:n.3124G>T | ||
| XR_932838.3:n.3124G>T | ||
| NM_001171.6:c.2943G>T MANE Select | NP_001162.5:p.Gln981His |