Linked Data
ClinVar Variation Id:
29674
ClinVar RCV Id:
RCV000022525
dbSNP Id:
rs121913223
gnomAD v2:
5-79929723-T-A
gnomAD v4:
5-80633904-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80633904T>A , CM000667.2:g.80633904T>A | GRCh38 |
| NC_000005.9:g.79929723T>A , CM000667.1:g.79929723T>A | GRCh37 |
| NC_000005.8:g.79965479T>A | NCBI36 |
| NG_023304.1:g.26078A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439211.7:c.458A>T MANE Select | ENSP00000396308.2:p.Asp153Val | |
| ENST00000439211.6:c.458A>T | ENSP00000396308.2:p.Asp153Val | |
| ENST00000504396.1:c.302A>T | ENSP00000421334.1:p.Asp101Val | |
| ENST00000505337.5:c.458A>T | ENSP00000426474.1:p.Asp153Val | |
| ENST00000508282.1:n.416A>T | ||
| ENST00000511032.5:c.369+3979A>T | ENSP00000422732.1:n.369+3979A>T | |
| ENST00000513048.5:n.339A>T | ||
| NM_000791.3:c.458A>T | NP_000782.1:p.Asp153Val | |
| NM_001290354.1:c.302A>T | NP_001277283.1:p.Asp101Val | |
| NM_001290357.1:c.369+3979A>T | NP_001277286.1:n.369+3979A>T | |
| NR_110936.1:n.773A>T | ||
| NM_000791.4:c.458A>T MANE Select | NP_000782.1:p.Asp153Val | |
| NM_001290354.2:c.302A>T | NP_001277283.1:p.Asp101Val | |
| NM_001290357.2:c.369+3979A>T | NP_001277286.1:n.369+3979A>T | |
| NR_110936.2:n.775A>T |