Linked Data
MyVariant Identifiers:
chr22:g.28146935T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750947T>G , CM000684.2:g.27750947T>G | GRCh38 |
| NC_000022.10:g.28146935T>G , CM000684.1:g.28146935T>G | GRCh37 |
| NC_000022.9:g.26476935T>G | NCBI36 |
| NG_023258.1:g.55552A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703102.1:n.456A>C | ||
| ENST00000302326.5:c.3931A>C MANE Select | ENSP00000304956.4:p.Arg1311= | |
| ENST00000302326.4:c.3931A>C | ENSP00000304956.4:p.Arg1311= | |
| ENST00000424656.1:c.284A>C | ||
| ENST00000497225.1:n.287A>C | ||
| NM_002430.2:c.3931A>C | NP_002421.3:p.Arg1311= | |
| NM_002430.3:c.3931A>C MANE Select | NP_002421.3:p.Arg1311= |