Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033558T>G , CM000666.2:g.52033558T>G | GRCh38 |
| NC_000004.11:g.52899724T>G , CM000666.1:g.52899724T>G | GRCh37 |
| NC_000004.10:g.52594481T>G | NCBI36 |
| NG_008891.1:g.9762A>C , LRG_204:g.9762A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.116A>C MANE Select | ENSP00000370839.6:p.Asn39Thr | |
| ENST00000381431.9:c.116A>C | ENSP00000370839.5:p.Asn39Thr | |
| ENST00000506357.5:c.102A>C | ||
| ENST00000514133.1:c.83A>C | ENSP00000425818.1:p.Asn28Thr | |
| NM_000232.4:c.116A>C , LRG_204t1:c.116A>C | NP_000223.1:p.Asn39Thr | |
| XM_011534403.1:c.34-3695A>C | XP_011532705.1:n.34-3695A>C | |
| NM_000232.5:c.116A>C MANE Select | NP_000223.1:p.Asn39Thr |