Linked Data
gnomAD v4:
2-218893199-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893199C>A , CM000664.2:g.218893199C>A | GRCh38 |
| NC_000002.11:g.219757921C>A , CM000664.1:g.219757921C>A | GRCh37 |
| NC_000002.10:g.219466165C>A | NCBI36 |
| NG_012179.1:g.17667C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1182C>A MANE Select | ENSP00000258411.3:p.Cys394Ter | |
| ENST00000258411.7:c.1182C>A | ENSP00000258411.3:p.Cys394Ter | |
| NM_025216.2:c.1182C>A | NP_079492.2:p.Cys394Ter | |
| XM_011511928.1:c.1131C>A | XP_011510230.1:p.Cys377Ter | |
| XM_011511929.1:c.1086C>A | XP_011510231.1:p.Cys362Ter | |
| XM_011511930.1:c.802C>A | XP_011510232.1:p.Pro268Thr | |
| XM_011511929.2:c.1086C>A | XP_011510231.1:p.Cys362Ter | |
| NM_025216.3:c.1182C>A MANE Select | NP_079492.2:p.Cys394Ter |