Linked Data
dbSNP Id:
rs775575449
ExAC:
15:78882742 A / T
gnomAD v2:
15-78882742-A-T
gnomAD v4:
15-78590400-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78590400A>T , CM000677.2:g.78590400A>T | GRCh38 |
| NC_000015.9:g.78882742A>T , CM000677.1:g.78882742A>T | GRCh37 |
| NC_000015.8:g.76669797A>T | NCBI36 |
| NG_023328.1:g.29881A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299565.9:c.1009A>T MANE Select | ENSP00000299565.5:p.Ile337Phe | |
| ENST00000394802.4:c.522+302A>T | ||
| ENST00000559554.5:c.458+551A>T | ENSP00000453519.1:n.458+551A>T | |
| ENST00000559576.1:c.39A>T | ||
| NM_000745.3:c.1009A>T | NP_000736.2:p.Ile337Phe | |
| NM_001307945.1:c.458+551A>T | NP_001294874.1:n.458+551A>T | |
| XM_005254142.2:c.707+302A>T | XP_005254199.1:n.707+302A>T | |
| NM_001307945.2:c.458+551A>T | NP_001294874.1:n.458+551A>T | |
| NM_000745.4:c.1009A>T MANE Select | NP_000736.2:p.Ile337Phe | |
| NM_001395171.1:c.1009A>T | NP_001382100.1:p.Ile337Phe | |
| NM_001395172.1:c.591+418A>T | NP_001382101.1:n.591+418A>T | |
| NM_001395173.1:c.713+296A>T | NP_001382102.1:n.713+296A>T | |
| NM_001395174.1:c.707+302A>T | NP_001382103.1:n.707+302A>T | |
| NM_001395175.1:c.455+551A>T | NP_001382104.1:n.455+551A>T |