Linked Data
dbSNP Id:
rs201775979
ExAC:
15:78882931 A / G
gnomAD v2:
15-78882931-A-G
gnomAD v3:
15-78590589-A-G
gnomAD v4:
15-78590589-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78590589A>G , CM000677.2:g.78590589A>G | GRCh38 |
| NC_000015.9:g.78882931A>G , CM000677.1:g.78882931A>G | GRCh37 |
| NC_000015.8:g.76669986A>G | NCBI36 |
| NG_023328.1:g.30070A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299565.9:c.1198A>G MANE Select | ENSP00000299565.5:p.Ile400Val | |
| ENST00000394802.4:c.522+491A>G | ||
| ENST00000559554.5:c.458+740A>G | ENSP00000453519.1:n.458+740A>G | |
| ENST00000559576.1:c.145+83A>G | ||
| NM_000745.3:c.1198A>G | NP_000736.2:p.Ile400Val | |
| NM_001307945.1:c.458+740A>G | NP_001294874.1:n.458+740A>G | |
| XM_005254142.2:c.707+491A>G | XP_005254199.1:n.707+491A>G | |
| NM_001307945.2:c.458+740A>G | NP_001294874.1:n.458+740A>G | |
| NM_000745.4:c.1198A>G MANE Select | NP_000736.2:p.Ile400Val | |
| NM_001395171.1:c.1115+83A>G | NP_001382100.1:n.1115+83A>G | |
| NM_001395172.1:c.591+607A>G | NP_001382101.1:n.591+607A>G | |
| NM_001395173.1:c.713+485A>G | NP_001382102.1:n.713+485A>G | |
| NM_001395174.1:c.707+491A>G | NP_001382103.1:n.707+491A>G | |
| NM_001395175.1:c.455+740A>G | NP_001382104.1:n.455+740A>G |