Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768429G>T , CM000663.2:g.115768429G>T | GRCh38 |
| NC_000001.10:g.116311050G>T , CM000663.1:g.116311050G>T | GRCh37 |
| NC_000001.9:g.116112573G>T | NCBI36 |
| NG_008802.1:g.5377C>A , LRG_404:g.5377C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-164C>A | ENSP00000518226.1:n.-164C>A | |
| ENST00000261448.6:c.113C>A MANE Select | ENSP00000261448.5:p.Ser38Tyr | |
| ENST00000261448.5:c.113C>A | ENSP00000261448.5:p.Ser38Tyr | |
| NM_001232.3:c.113C>A , LRG_404t1:c.113C>A | NP_001223.2:p.Ser38Tyr | |
| NM_001232.4:c.113C>A MANE Select | NP_001223.2:p.Ser38Tyr |