Linked Data
ClinVar Variation Id:
2868947
ClinVar RCV Id:
RCV003705219
dbSNP Id:
rs991738444
gnomAD v2:
14-21868728-G-T
gnomAD v3:
14-21400569-G-T
gnomAD v4:
14-21400569-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21400569G>T , CM000676.2:g.21400569G>T | GRCh38 |
| NC_000014.8:g.21868728G>T , CM000676.1:g.21868728G>T | GRCh37 |
| NC_000014.7:g.20938568G>T | NCBI36 |
| NG_021249.1:g.41730C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.3577C>A | ENSP00000406288.3:p.Arg1193= | |
| ENST00000555935.2:c.2090C>A | ||
| ENST00000555962.6:c.265-262C>A | ENSP00000495174.1:n.265-262C>A | |
| ENST00000557364.6:c.4414C>A | ENSP00000451601.1:p.Arg1472= | |
| ENST00000643469.1:c.4414C>A | ENSP00000495070.1:p.Arg1472= | |
| ENST00000645206.1:n.2928C>A | ||
| ENST00000645929.1:c.3577C>A | ENSP00000494402.1:p.Arg1193= | |
| ENST00000646340.1:c.4420C>A | ENSP00000496730.1:p.Arg1474= | |
| ENST00000646558.1:n.1230C>A | ||
| ENST00000646647.2:c.4414C>A MANE Select | ENSP00000495240.1:p.Arg1472= | |
| ENST00000399982.6:c.4414C>A | ENSP00000382863.2:p.Arg1472= | |
| ENST00000430710.7:c.3577C>A | ENSP00000406288.3:p.Arg1193= | |
| ENST00000555935.1:c.2090C>A | ||
| ENST00000555962.5:n.525-262C>A | ||
| ENST00000557364.5:c.4414C>A | ENSP00000451601.1:p.Arg1472= | |
| NM_001170629.1:c.4414C>A | NP_001164100.1:p.Arg1472= | |
| NM_020920.3:c.3577C>A | NP_065971.2:p.Arg1193= | |
| NM_001170629.2:c.4414C>A MANE Select | NP_001164100.1:p.Arg1472= | |
| NM_020920.4:c.3577C>A | NP_065971.2:p.Arg1193= |