Linked Data
dbSNP Id:
rs1593434259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48342678T>G , CM000675.2:g.48342678T>G | GRCh38 |
| NC_000013.10:g.48916814T>G , CM000675.1:g.48916814T>G | GRCh37 |
| NC_000013.9:g.47814815T>G | NCBI36 |
| NG_009009.1:g.43932T>G , LRG_517:g.43932T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.344T>G MANE Select | ENSP00000267163.4:p.Phe115Cys | |
| ENST00000650461.1:c.344T>G | ENSP00000497193.1:p.Phe115Cys | |
| ENST00000267163.4:c.344T>G | ENSP00000267163.4:p.Phe115Cys | |
| ENST00000467505.5:c.138-17339T>G | ENSP00000434702.1:n.138-17339T>G | |
| ENST00000525036.1:n.506T>G | ||
| NM_000321.2:c.344T>G , LRG_517t1:c.344T>G | NP_000312.2:p.Phe115Cys | |
| XM_011535171.1:c.83T>G | XP_011533473.1:p.Phe28Cys | |
| XM_011535171.2:c.83T>G | XP_011533473.1:p.Phe28Cys | |
| NM_000321.3:c.344T>G MANE Select | NP_000312.2:p.Phe115Cys |