Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763474G>T , CM000679.2:g.74763474G>T | GRCh38 |
| NC_000017.10:g.72759613G>T , CM000679.1:g.72759613G>T | GRCh37 |
| NC_000017.9:g.70271208G>T | NCBI36 |
| NG_013022.1:g.19851G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.711G>T MANE Select | ENSP00000262613.5:p.Glu237Asp | |
| ENST00000262613.9:c.711G>T | ENSP00000262613.5:p.Glu237Asp | |
| ENST00000413388.2:c.243G>T | ENSP00000464982.1:p.Glu81Asp | |
| ENST00000578958.1:n.445G>T | ||
| ENST00000581356.1:c.47G>T | ||
| ENST00000583369.5:c.442-4673G>T | ENSP00000464321.1:n.442-4673G>T | |
| NM_004252.4:c.711G>T | NP_004243.1:p.Glu237Asp | |
| XR_002958087.1:n.930G>T | ||
| NM_004252.5:c.711G>T MANE Select | NP_004243.1:p.Glu237Asp |