Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818852T>A , CM000671.2:g.129818852T>A | GRCh38 |
| NC_000009.11:g.132581131T>A , CM000671.1:g.132581131T>A | GRCh37 |
| NC_000009.10:g.131620952T>A | NCBI36 |
| NG_008049.1:g.10311A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.513A>T MANE Select | ENSP00000345719.4:p.Glu171Asp | |
| ENST00000651202.1:c.609A>T | ENSP00000498222.1:p.Glu203Asp | |
| ENST00000351698.4:c.513A>T | ENSP00000345719.4:p.Glu171Asp | |
| ENST00000473604.2:n.623A>T | ||
| NM_000113.2:c.513A>T | NP_000104.1:p.Glu171Asp | |
| XR_929731.1:n.673A>T | ||
| XR_929731.3:n.541A>T | ||
| NM_000113.3:c.513A>T MANE Select | NP_000104.1:p.Glu171Asp |