Linked Data
ClinVar Variation Id:
388743
dbSNP Id:
rs377576408
ExAC:
16:70287952 T / G
gnomAD v2:
16-70287952-T-G
gnomAD v3:
16-70254049-T-G
gnomAD v4:
16-70254049-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70254049T>G , CM000678.2:g.70254049T>G | GRCh38 |
| NC_000016.9:g.70287952T>G , CM000678.1:g.70287952T>G | GRCh37 |
| NC_000016.8:g.68845453T>G | NCBI36 |
| NG_023191.1:g.40461A>C , LRG_359:g.40461A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2401-11A>C MANE Select | ENSP00000261772.8:n.2401-11A>C | |
| ENST00000565361.3:c.2494-11A>C | ENSP00000455360.3:n.2494-11A>C | |
| ENST00000569825.2:n.514-11A>C | ||
| ENST00000674512.1:c.2380-11A>C | ENSP00000501613.1:n.2380-11A>C | |
| ENST00000674652.1:c.*2190-11A>C | ENSP00000502620.1:n.*2190-11A>C | |
| ENST00000674691.1:c.2401-11A>C | ENSP00000502247.1:n.2401-11A>C | |
| ENST00000674768.1:c.*656-11A>C | ENSP00000501679.1:n.*656-11A>C | |
| ENST00000674811.1:c.*594-11A>C | ENSP00000502055.1:n.*594-11A>C | |
| ENST00000674848.1:n.2450-11A>C | ||
| ENST00000674962.1:n.4755-11A>C | ||
| ENST00000674963.1:c.2401-11A>C | ENSP00000501924.1:n.2401-11A>C | |
| ENST00000675035.1:c.*11-11A>C | ENSP00000502712.1:n.*11-11A>C | |
| ENST00000675045.1:c.2428-11A>C | ENSP00000502014.1:n.2428-11A>C | |
| ENST00000675120.1:c.*711-11A>C | ENSP00000502823.1:n.*711-11A>C | |
| ENST00000675133.1:c.2374-11A>C | ENSP00000502230.1:n.2374-11A>C | |
| ENST00000675270.1:n.2536-11A>C | ||
| ENST00000675297.1:c.*1324A>C | ENSP00000502753.1:n.*1324A>C | |
| ENST00000675371.1:c.*11-11A>C | ENSP00000502645.1:n.*11-11A>C | |
| ENST00000675403.1:n.3321-11A>C | ||
| ENST00000675569.1:c.*1635-11A>C | ENSP00000502534.1:n.*1635-11A>C | |
| ENST00000675588.1:n.1137A>C | ||
| ENST00000675643.1:c.2401-11A>C | ENSP00000502797.1:n.2401-11A>C | |
| ENST00000675691.1:c.2272-11A>C | ENSP00000502196.1:n.2272-11A>C | |
| ENST00000675751.1:c.*1428-11A>C | ENSP00000502277.1:n.*1428-11A>C | |
| ENST00000675853.1:c.2401-11A>C | ENSP00000502367.1:n.2401-11A>C | |
| ENST00000675917.1:n.2698-11A>C | ||
| ENST00000675953.1:c.2317-11A>C | ENSP00000502321.1:n.2317-11A>C | |
| ENST00000675986.1:n.2559-11A>C | ||
| ENST00000676004.1:c.*2400-11A>C | ENSP00000502765.1:n.*2400-11A>C | |
| ENST00000676040.1:c.*1635-11A>C | ENSP00000502108.1:n.*1635-11A>C | |
| ENST00000676168.1:c.*11-11A>C | ENSP00000502479.1:n.*11-11A>C | |
| ENST00000676209.1:c.*753-11A>C | ENSP00000502052.1:n.*753-11A>C | |
| ENST00000676211.1:c.*1428-11A>C | ENSP00000502726.1:n.*1428-11A>C | |
| ENST00000676212.1:c.*90-11A>C | ENSP00000501853.1:n.*90-11A>C | |
| ENST00000676247.1:c.*753-11A>C | ENSP00000502699.1:n.*753-11A>C | |
| ENST00000261772.12:c.2401-11A>C | ENSP00000261772.7:n.2401-11A>C | |
| ENST00000569825.1:n.407-11A>C | ||
| NM_001605.2:c.2401-11A>C , LRG_359t1:c.2401-11A>C | NP_001596.2:n.2401-11A>C | |
| XR_933220.1:n.2367-11A>C | ||
| XR_933220.3:n.2326-11A>C | ||
| NM_001605.3:c.2401-11A>C MANE Select | NP_001596.2:n.2401-11A>C |