Linked Data
ClinVar Variation Id:
392882
ClinVar RCV Id:
RCV000440969
dbSNP Id:
rs1057524677
gnomAD v3:
14-21426154-G-A
gnomAD v4:
14-21426154-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21426154G>A , CM000676.2:g.21426154G>A | GRCh38 |
| NC_000014.8:g.21894313G>A , CM000676.1:g.21894313G>A | GRCh37 |
| NC_000014.7:g.20964153G>A | NCBI36 |
| NG_021249.1:g.16145C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.853C>T | ENSP00000406288.3:p.Arg285Ter | |
| ENST00000553651.2:n.5122C>T | ||
| ENST00000555962.6:c.-111+5657C>T | ENSP00000495174.1:n.-111+5657C>T | |
| ENST00000557364.6:c.1690C>T | ENSP00000451601.1:p.Arg564Ter | |
| ENST00000642518.1:c.853C>T | ENSP00000496722.1:p.Arg285Ter | |
| ENST00000643048.1:n.1985C>T | ||
| ENST00000643469.1:c.1690C>T | ENSP00000495070.1:p.Arg564Ter | |
| ENST00000645140.1:c.1602C>T | ||
| ENST00000645206.1:n.204C>T | ||
| ENST00000645929.1:c.853C>T | ENSP00000494402.1:p.Arg285Ter | |
| ENST00000646340.1:c.1696C>T | ENSP00000496730.1:p.Arg566Ter | |
| ENST00000646647.2:c.1690C>T MANE Select | ENSP00000495240.1:p.Arg564Ter | |
| ENST00000399982.6:c.1690C>T | ENSP00000382863.2:p.Arg564Ter | |
| ENST00000430710.7:c.853C>T | ENSP00000406288.3:p.Arg285Ter | |
| ENST00000555962.5:n.150+5657C>T | ||
| ENST00000557364.5:c.1690C>T | ENSP00000451601.1:p.Arg564Ter | |
| NM_001170629.1:c.1690C>T | NP_001164100.1:p.Arg564Ter | |
| NM_020920.3:c.853C>T | NP_065971.2:p.Arg285Ter | |
| NM_001170629.2:c.1690C>T MANE Select | NP_001164100.1:p.Arg564Ter | |
| NM_020920.4:c.853C>T | NP_065971.2:p.Arg285Ter |