Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524765T>A , CM000680.2:g.31524765T>A | GRCh38 |
| NC_000018.9:g.29104728T>A , CM000680.1:g.29104728T>A | GRCh37 |
| NC_000018.8:g.27358726T>A | NCBI36 |
| NG_007072.3:g.31524T>A , LRG_397:g.31524T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.722T>A | ||
| ENST00000683614.2:n.722T>A | ||
| ENST00000682087.1:c.722T>A | ||
| ENST00000683614.1:c.722T>A | ||
| ENST00000261590.13:c.891T>A MANE Select | ENSP00000261590.8:p.Asp297Glu | |
| ENST00000261590.12:c.891T>A | ENSP00000261590.8:p.Asp297Glu | |
| NM_001943.3:c.891T>A , LRG_397t1:c.891T>A | NP_001934.2:p.Asp297Glu | |
| NM_001943.4:c.891T>A | NP_001934.2:p.Asp297Glu | |
| XM_024451095.1:c.357T>A | XP_024306863.1:p.Asp119Glu | |
| NM_001943.5:c.891T>A MANE Select | NP_001934.2:p.Asp297Glu |