Linked Data
MyVariant Identifiers:
chr22:g.28146915A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750927A>T , CM000684.2:g.27750927A>T | GRCh38 |
| NC_000022.10:g.28146915A>T , CM000684.1:g.28146915A>T | GRCh37 |
| NC_000022.9:g.26476915A>T | NCBI36 |
| NG_023258.1:g.55572T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.476T>A | ||
| ENST00000302326.5:c.3951T>A MANE Select | ENSP00000304956.4:p.Ala1317= | |
| ENST00000302326.4:c.3951T>A | ENSP00000304956.4:p.Ala1317= | |
| ENST00000424656.1:c.304T>A | ||
| ENST00000497225.1:n.307T>A | ||
| NM_002430.2:c.3951T>A | NP_002421.3:p.Ala1317= | |
| NM_002430.3:c.3951T>A MANE Select | NP_002421.3:p.Ala1317= |