Linked Data
dbSNP Id:
rs1295190022
gnomAD v2:
14-21877984-T-A
gnomAD v3:
14-21409825-T-A
gnomAD v4:
14-21409825-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21409825T>A , CM000676.2:g.21409825T>A | GRCh38 |
| NC_000014.8:g.21877984T>A , CM000676.1:g.21877984T>A | GRCh37 |
| NC_000014.7:g.20947824T>A | NCBI36 |
| NG_021249.1:g.32474A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.1527+26A>T | ENSP00000406288.3:n.1527+26A>T | |
| ENST00000555935.2:c.40+26A>T | ||
| ENST00000555962.6:c.-110-6783A>T | ENSP00000495174.1:n.-110-6783A>T | |
| ENST00000557364.6:c.2364+26A>T | ENSP00000451601.1:n.2364+26A>T | |
| ENST00000643469.1:c.2364+26A>T | ENSP00000495070.1:n.2364+26A>T | |
| ENST00000645140.1:c.2276+26A>T | ||
| ENST00000645206.1:n.878+26A>T | ||
| ENST00000645929.1:c.1527+26A>T | ENSP00000494402.1:n.1527+26A>T | |
| ENST00000646340.1:c.2370+26A>T | ENSP00000496730.1:n.2370+26A>T | |
| ENST00000646647.2:c.2364+26A>T MANE Select | ENSP00000495240.1:n.2364+26A>T | |
| ENST00000399982.6:c.2364+26A>T | ENSP00000382863.2:n.2364+26A>T | |
| ENST00000430710.7:c.1527+26A>T | ENSP00000406288.3:n.1527+26A>T | |
| ENST00000554384.1:n.232+26A>T | ||
| ENST00000555935.1:c.40+26A>T | ||
| ENST00000555962.5:n.151-6783A>T | ||
| ENST00000557364.5:c.2364+26A>T | ENSP00000451601.1:n.2364+26A>T | |
| NM_001170629.1:c.2364+26A>T | NP_001164100.1:n.2364+26A>T | |
| NM_020920.3:c.1527+26A>T | NP_065971.2:n.1527+26A>T | |
| NM_001170629.2:c.2364+26A>T MANE Select | NP_001164100.1:n.2364+26A>T | |
| NM_020920.4:c.1527+26A>T | NP_065971.2:n.1527+26A>T |