Linked Data
dbSNP Id:
rs768477715
ExAC:
15:74710277 G / A
gnomAD v2:
15-74710277-G-A
gnomAD v3:
15-74417936-G-A
gnomAD v4:
15-74417936-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74417936G>A , CM000677.2:g.74417936G>A | GRCh38 |
| NC_000015.9:g.74710277G>A , CM000677.1:g.74710277G>A | GRCh37 |
| NC_000015.8:g.72497330G>A | NCBI36 |
| NG_011733.1:g.21023C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261918.9:c.406C>T MANE Select | ENSP00000261918.4:p.Arg136Trp | |
| ENST00000542748.6:c.-90C>T | ENSP00000441493.1:n.-90C>T | |
| ENST00000261918.8:c.406C>T | ENSP00000261918.4:p.Arg136Trp | |
| ENST00000542748.5:c.-90C>T | ENSP00000441493.1:n.-90C>T | |
| ENST00000543145.6:c.364C>T | ENSP00000438966.2:p.Arg122Trp | |
| ENST00000567345.1:c.-90C>T | ENSP00000454365.1:n.-90C>T | |
| NM_001146029.1:c.364C>T | NP_001139501.1:p.Arg122Trp | |
| NM_001146030.1:c.-90C>T | NP_001139502.1:n.-90C>T | |
| NM_003612.3:c.406C>T | NP_003603.1:p.Arg136Trp | |
| NM_001146029.2:c.364C>T | NP_001139501.1:p.Arg122Trp | |
| NM_001146030.2:c.-90C>T | NP_001139502.1:n.-90C>T | |
| NM_003612.4:c.406C>T | NP_003603.1:p.Arg136Trp | |
| NM_003612.5:c.406C>T MANE Select | NP_003603.1:p.Arg136Trp | |
| NM_001146029.3:c.364C>T | NP_001139501.1:p.Arg122Trp | |
| NM_001146030.3:c.-90C>T | NP_001139502.1:n.-90C>T |