Linked Data
dbSNP Id:
rs748780333
ExAC:
15:78882936 C / T
gnomAD v2:
15-78882936-C-T
gnomAD v4:
15-78590594-C-T
MyVariant Identifiers:
chr15:g.78882936C>T (hg19)
chr15:g.78882936_78882941delinsTTACAT (hg19)
chr15:g.78590594C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78590594C>T , CM000677.2:g.78590594C>T | GRCh38 |
| NC_000015.9:g.78882936C>T , CM000677.1:g.78882936C>T | GRCh37 |
| NC_000015.8:g.76669991C>T | NCBI36 |
| NG_023328.1:g.30075C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299565.9:c.1203C>T MANE Select | ENSP00000299565.5:p.Arg401= | |
| ENST00000394802.4:c.522+496C>T | ||
| ENST00000559554.5:c.458+745C>T | ENSP00000453519.1:n.458+745C>T | |
| ENST00000559576.1:c.145+88C>T | ||
| NM_000745.3:c.1203C>T | NP_000736.2:p.Arg401= | |
| NM_001307945.1:c.458+745C>T | NP_001294874.1:n.458+745C>T | |
| XM_005254142.2:c.707+496C>T | XP_005254199.1:n.707+496C>T | |
| NM_001307945.2:c.458+745C>T | NP_001294874.1:n.458+745C>T | |
| NM_000745.4:c.1203C>T MANE Select | NP_000736.2:p.Arg401= | |
| NM_001395171.1:c.1115+88C>T | NP_001382100.1:n.1115+88C>T | |
| NM_001395172.1:c.591+612C>T | NP_001382101.1:n.591+612C>T | |
| NM_001395173.1:c.713+490C>T | NP_001382102.1:n.713+490C>T | |
| NM_001395174.1:c.707+496C>T | NP_001382103.1:n.707+496C>T | |
| NM_001395175.1:c.455+745C>T | NP_001382104.1:n.455+745C>T |