Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750945T>A , CM000684.2:g.27750945T>A | GRCh38 |
| NC_000022.10:g.28146933T>A , CM000684.1:g.28146933T>A | GRCh37 |
| NC_000022.9:g.26476933T>A | NCBI36 |
| NG_023258.1:g.55554A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703102.1:n.458A>T | ||
| ENST00000302326.5:c.3933A>T MANE Select | ENSP00000304956.4:p.Arg1311Ser | |
| ENST00000302326.4:c.3933A>T | ENSP00000304956.4:p.Arg1311Ser | |
| ENST00000424656.1:c.286A>T | ||
| ENST00000497225.1:n.289A>T | ||
| NM_002430.2:c.3933A>T | NP_002421.3:p.Arg1311Ser | |
| NM_002430.3:c.3933A>T MANE Select | NP_002421.3:p.Arg1311Ser |