Linked Data
dbSNP Id:
rs758040141
ExAC:
5:10256212 A / T
gnomAD v2:
5-10256212-A-T
gnomAD v4:
5-10256100-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10256100A>T , CM000667.2:g.10256100A>T | GRCh38 |
| NC_000005.9:g.10256212A>T , CM000667.1:g.10256212A>T | GRCh37 |
| NC_000005.8:g.10309212A>T | NCBI36 |
| NG_012160.1:g.10931A>T , LRG_361:g.10931A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.477A>T MANE Select | ENSP00000280326.4:p.Ile159= | |
| ENST00000280326.8:c.477A>T | ENSP00000280326.4:p.Ile159= | |
| ENST00000423695.6:n.128-2011A>T | ||
| ENST00000503026.5:c.414A>T | ENSP00000423318.1:p.Ile138= | |
| ENST00000503454.5:c.366A>T | ||
| ENST00000506600.1:c.198A>T | ENSP00000423052.1:p.Ile66= | |
| ENST00000511700.1:c.392A>T | ENSP00000423087.1:n.392A>T | |
| ENST00000512975.5:c.106-2011A>T | ENSP00000425751.1:n.106-2011A>T | |
| ENST00000515390.5:c.312A>T | ENSP00000426923.1:p.Ile104= | |
| ENST00000515676.5:c.363A>T | ENSP00000427297.1:p.Ile121= | |
| ENST00000625723.1:c.106-2011A>T | ENSP00000487128.1:n.106-2011A>T | |
| NM_001306153.1:c.414A>T | NP_001293082.1:p.Ile138= | |
| NM_001306154.1:c.312A>T | NP_001293083.1:p.Ile104= | |
| NM_001306155.1:c.198A>T | NP_001293084.1:p.Ile66= | |
| NM_001306156.1:c.363A>T | NP_001293085.1:p.Ile121= | |
| NM_012073.3:c.477A>T , LRG_361t1:c.477A>T | NP_036205.1:p.Ile159= | |
| NM_012073.4:c.477A>T | NP_036205.1:p.Ile159= | |
| NM_012073.5:c.477A>T MANE Select | NP_036205.1:p.Ile159= | |
| NM_001306154.2:c.312A>T | NP_001293083.1:p.Ile104= | |
| NM_001306155.2:c.198A>T | NP_001293084.1:p.Ile66= | |
| NM_001306156.2:c.363A>T | NP_001293085.1:p.Ile121= |