Linked Data
ClinVar Variation Id:
527891
dbSNP Id:
rs144475004
ExAC:
17:78157888 G / C
gnomAD v2:
17-78157888-G-C
gnomAD v3:
17-80184089-G-C
gnomAD v4:
17-80184089-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80184089G>C , CM000679.2:g.80184089G>C | GRCh38 |
| NC_000017.10:g.78157888G>C , CM000679.1:g.78157888G>C | GRCh37 |
| NC_000017.9:g.75772483G>C | NCBI36 |
| NG_032778.1:g.19098G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000571427.2:c.526G>C | ENSP00000516501.1:p.Asp176His | |
| ENST00000703566.1:c.526G>C | ENSP00000515382.1:p.Asp176His | |
| ENST00000703567.1:c.526G>C | ENSP00000515383.1:p.Asp176His | |
| ENST00000703568.1:c.526G>C | ENSP00000515384.1:p.Asp176His | |
| ENST00000703569.1:n.727G>C | ||
| ENST00000648128.1:c.98G>C | ||
| ENST00000648509.2:c.526G>C MANE Select | ENSP00000498071.1:p.Asp176His | |
| ENST00000650806.1:n.768G>C | ||
| ENST00000650867.1:c.526G>C | ENSP00000498570.1:p.Asp176His | |
| ENST00000651068.1:c.526G>C | ENSP00000498274.1:p.Asp176His | |
| ENST00000651388.1:c.526G>C | ENSP00000498956.1:p.Asp176His | |
| ENST00000651672.1:c.526G>C | ENSP00000499145.1:p.Asp176His | |
| ENST00000652599.1:n.962G>C | ||
| ENST00000344227.6:c.526G>C | ENSP00000344549.2:p.Asp176His | |
| ENST00000570421.5:c.526G>C | ENSP00000461806.1:p.Asp176His | |
| ENST00000573882.5:c.526G>C | ENSP00000458715.1:p.Asp176His | |
| ENST00000575500.5:c.526G>C | ENSP00000460883.1:p.Asp176His | |
| NM_001257970.1:c.526G>C | NP_001244899.1:p.Asp176His | |
| NM_024110.4:c.526G>C | NP_077015.2:p.Asp176His | |
| NR_047566.1:n.759G>C | ||
| XM_011525212.1:c.526G>C | XP_011523514.1:p.Asp176His | |
| XM_011525213.1:c.526G>C | XP_011523515.1:p.Asp176His | |
| XM_011525214.1:c.526G>C | XP_011523516.1:p.Asp176His | |
| XM_011525215.1:c.526G>C | XP_011523517.1:p.Asp176His | |
| XM_011525216.1:c.526G>C | XP_011523518.1:p.Asp176His | |
| XM_011525217.1:c.526G>C | XP_011523519.1:p.Asp176His | |
| XM_011525218.1:c.526G>C | XP_011523520.1:p.Asp176His | |
| XM_011525219.1:c.526G>C | XP_011523521.1:p.Asp176His | |
| XM_011525220.1:c.526G>C | XP_011523522.1:p.Asp176His | |
| XM_011525221.1:c.526G>C | XP_011523523.1:p.Asp176His | |
| XM_011525222.1:c.526G>C | XP_011523524.1:p.Asp176His | |
| XM_011525223.1:c.526G>C | XP_011523525.1:p.Asp176His | |
| XR_934547.1:n.666G>C | ||
| NM_001366385.1:c.526G>C MANE Select | NP_001353314.1:p.Asp176His | |
| XM_011525218.2:c.526G>C | XP_011523520.1:p.Asp176His | |
| XM_024450934.1:c.526G>C | XP_024306702.1:p.Asp176His | |
| XM_024450935.1:c.526G>C | XP_024306703.1:p.Asp176His | |
| XM_024450936.1:c.526G>C | XP_024306704.1:p.Asp176His | |
| XM_024450937.1:c.526G>C | XP_024306705.1:p.Asp176His | |
| XR_002958065.1:n.666G>C | ||
| XR_002958066.1:n.666G>C | ||
| NR_047566.2:n.721G>C |