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