Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95247619A>T , CM000670.2:g.95247619A>T | GRCh38 |
| NC_000008.10:g.96259847A>T , CM000670.1:g.96259847A>T | GRCh37 |
| NC_000008.9:g.96329023A>T | NCBI36 |
| NG_032804.1:g.26616T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286688.6:c.622T>A MANE Select | ENSP00000286688.5:p.Ter208Lys | |
| ENST00000286688.5:c.622T>A | ENSP00000286688.5:p.Ter208Lys | |
| NM_177965.3:c.622T>A | NP_808880.1:p.Ter208Lys | |
| XM_005250799.2:c.865T>A | XP_005250856.2:p.Ter289Lys | |
| NM_001363260.1:c.526T>A | NP_001350189.1:p.Ter176Lys | |
| NM_177965.4:c.622T>A MANE Select | NP_808880.1:p.Ter208Lys |