Linked Data
gnomAD v4:
22-25231724-C-A
COSMIC:
COSM387282
MyVariant Identifiers:
chr22:g.25627691C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25231724C>A , CM000684.2:g.25231724C>A | GRCh38 |
| NC_000022.10:g.25627691C>A , CM000684.1:g.25627691C>A | GRCh37 |
| NC_000022.9:g.23957691C>A | NCBI36 |
| NG_009827.1:g.17080C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398215.3:c.570C>A MANE Select | ENSP00000381273.2:p.Ile190= | |
| ENST00000651629.1:c.570C>A | ENSP00000498905.1:p.Ile190= | |
| ENST00000398215.2:c.570C>A | ENSP00000381273.2:p.Ile190= | |
| NM_000496.2:c.570C>A | NP_000487.1:p.Ile190= | |
| XM_006724141.2:c.570C>A | XP_006724204.1:p.Ile190= | |
| XM_011529900.1:c.570C>A | XP_011528202.1:p.Ile190= | |
| XM_011529901.1:c.570C>A | XP_011528203.1:p.Ile190= | |
| XM_006724141.3:c.570C>A | XP_006724204.1:p.Ile190= | |
| XM_011529900.2:c.570C>A | XP_011528202.1:p.Ile190= | |
| NM_000496.3:c.570C>A MANE Select | NP_000487.1:p.Ile190= |