Linked Data
MyVariant Identifiers:
chr22:g.45689177C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293296C>G , CM000684.2:g.45293296C>G | GRCh38 |
| NC_000022.10:g.45689177C>G , CM000684.1:g.45689177C>G | GRCh37 |
| NC_000022.9:g.44067841C>G | NCBI36 |
| NG_016203.1:g.13310C>G | |
| NG_016203.2:g.13310C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.687C>G MANE Select | ENSP00000216211.4:p.Ala229= | |
| ENST00000216211.8:c.687C>G | ENSP00000216211.4:p.Ala229= | |
| ENST00000396082.2:c.324C>G | ENSP00000379391.2:p.Ala108= | |
| NM_001167574.1:c.324C>G | NP_001161046.1:p.Ala108= | |
| NM_006953.3:c.687C>G | NP_008884.1:p.Ala229= | |
| XM_011530364.1:c.693C>G | XP_011528666.1:p.Ala231= | |
| XM_011530365.1:c.330C>G | XP_011528667.1:p.Ala110= | |
| NM_006953.4:c.687C>G MANE Select | NP_008884.1:p.Ala229= | |
| NM_001167574.2:c.324C>G | NP_001161046.1:p.Ala108= |