Linked Data
ClinVar Variation Id:
525359
dbSNP Id:
rs780116486
ExAC:
17:72287266 C / T
gnomAD v2:
17-72287266-C-T
gnomAD v4:
17-74291127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74291127C>T , CM000679.2:g.74291127C>T | GRCh38 |
| NC_000017.10:g.72287266C>T , CM000679.1:g.72287266C>T | GRCh37 |
| NC_000017.9:g.69798861C>T | NCBI36 |
| NG_016865.1:g.21881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311014.11:c.718C>T MANE Select | ENSP00000308312.6:p.Gln240Ter | |
| ENST00000311014.10:c.718C>T | ENSP00000308312.6:p.Gln240Ter | |
| ENST00000446837.2:c.718C>T | ENSP00000400252.2:p.Gln240Ter | |
| ENST00000579055.5:c.*89C>T | ENSP00000462767.1:n.*89C>T | |
| ENST00000579490.5:c.889C>T | ENSP00000464197.1:p.Gln297Ter | |
| ENST00000582036.5:c.718C>T | ENSP00000461950.1:p.Gln240Ter | |
| NM_001172810.1:c.718C>T | NP_001166281.1:p.Gln240Ter | |
| NM_023036.4:c.718C>T | NP_075462.3:p.Gln240Ter | |
| XM_011525125.1:c.718C>T | XP_011523427.1:p.Gln240Ter | |
| XR_429915.2:n.840C>T | ||
| XR_429916.2:n.840C>T | ||
| XR_934518.1:n.842C>T | ||
| XR_934519.1:n.839C>T | ||
| XR_934520.1:n.915C>T | ||
| XR_934521.1:n.827C>T | ||
| XR_934522.1:n.815C>T | ||
| XR_934523.1:n.824C>T | ||
| XR_934524.1:n.842C>T | ||
| XR_934525.1:n.842C>T | ||
| XR_934526.1:n.734+1391C>T | ||
| XR_934527.1:n.840C>T | ||
| XR_934528.1:n.840C>T | ||
| XR_934529.1:n.721C>T | ||
| XR_934530.1:n.794C>T | ||
| XR_934531.1:n.720C>T | ||
| NM_001172810.2:c.718C>T | NP_001166281.1:p.Gln240Ter | |
| NM_001353167.1:c.718C>T | NP_001340096.1:p.Gln240Ter | |
| NM_023036.5:c.718C>T | NP_075462.3:p.Gln240Ter | |
| NR_148379.1:n.743C>T | ||
| XM_011525125.2:c.718C>T | XP_011523427.1:p.Gln240Ter | |
| XM_024450874.1:c.718C>T | XP_024306642.1:p.Gln240Ter | |
| XM_024450875.1:c.718C>T | XP_024306643.1:p.Gln240Ter | |
| XM_024450876.1:c.718C>T | XP_024306644.1:p.Gln240Ter | |
| XM_024450877.1:c.718C>T | XP_024306645.1:p.Gln240Ter | |
| XM_024450878.1:c.718C>T | XP_024306646.1:p.Gln240Ter | |
| XM_024450879.1:c.718C>T | XP_024306647.1:p.Gln240Ter | |
| XM_024450880.1:c.718C>T | XP_024306648.1:p.Gln240Ter | |
| XM_024450881.1:c.610+1391C>T | XP_024306649.1:n.610+1391C>T | |
| XM_024450882.1:c.718C>T | XP_024306650.1:p.Gln240Ter | |
| XM_024450883.1:c.718C>T | XP_024306651.1:p.Gln240Ter | |
| XM_024450884.1:c.718C>T | XP_024306652.1:p.Gln240Ter | |
| XM_024450885.1:c.289C>T | XP_024306653.1:p.Gln97Ter | |
| XM_024450886.1:c.289C>T | XP_024306654.1:p.Gln97Ter | |
| NM_023036.6:c.718C>T MANE Select | NP_075462.3:p.Gln240Ter | |
| NM_001172810.3:c.718C>T | NP_001166281.1:p.Gln240Ter | |
| NM_001353167.2:c.718C>T | NP_001340096.1:p.Gln240Ter | |
| NR_148379.2:n.719C>T |