Linked Data
MyVariant Identifiers:
chr22:g.23627376C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23285189C>A , CM000684.2:g.23285189C>A | GRCh38 |
| NC_000022.10:g.23627376C>A , CM000684.1:g.23627376C>A | GRCh37 |
| NC_000022.9:g.21957376C>A | NCBI36 |
| NG_009244.1:g.109825C>A | |
| NG_009244.2:g.109825C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305877.13:c.2394C>A MANE Select | ENSP00000303507.8:p.Ile798= | |
| ENST00000305877.12:c.2394C>A | ENSP00000303507.8:p.Ile798= | |
| ENST00000359540.7:c.2394C>A | ENSP00000352535.3:p.Ile798= | |
| ENST00000398512.9:c.1270-2955C>A | ENSP00000381524.6:n.1270-2955C>A | |
| ENST00000466076.1:n.468C>A | ||
| ENST00000487968.5:n.1047C>A | ||
| NM_004327.3:c.2394C>A | NP_004318.3:p.Ile798= | |
| NM_021574.2:c.2394C>A | NP_067585.2:p.Ile798= | |
| NM_004327.4:c.2394C>A MANE Select | NP_004318.3:p.Ile798= | |
| NM_021574.3:c.2394C>A | NP_067585.2:p.Ile798= |