Linked Data
gnomAD v4:
2-218893210-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893210G>A , CM000664.2:g.218893210G>A | GRCh38 |
| NC_000002.11:g.219757932G>A , CM000664.1:g.219757932G>A | GRCh37 |
| NC_000002.10:g.219466176G>A | NCBI36 |
| NG_012179.1:g.17678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1193G>A MANE Select | ENSP00000258411.3:p.Trp398Ter | |
| ENST00000258411.7:c.1193G>A | ENSP00000258411.3:p.Trp398Ter | |
| NM_025216.2:c.1193G>A | NP_079492.2:p.Trp398Ter | |
| XM_011511928.1:c.1142G>A | XP_011510230.1:p.Trp381Ter | |
| XM_011511929.1:c.1097G>A | XP_011510231.1:p.Trp366Ter | |
| XM_011511930.1:c.813G>A | XP_011510232.1:p.Leu271= | |
| XM_011511929.2:c.1097G>A | XP_011510231.1:p.Trp366Ter | |
| NM_025216.3:c.1193G>A MANE Select | NP_079492.2:p.Trp398Ter |