Linked Data
gnomAD v4:
2-218882122-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882122C>A , CM000664.2:g.218882122C>A | GRCh38 |
| NC_000002.11:g.219746844C>A , CM000664.1:g.219746844C>A | GRCh37 |
| NC_000002.10:g.219455088C>A | NCBI36 |
| NG_012179.1:g.6590C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.114-39C>A MANE Select | ENSP00000258411.3:n.114-39C>A | |
| ENST00000258411.7:c.114-39C>A | ENSP00000258411.3:n.114-39C>A | |
| NM_025216.2:c.114-39C>A | NP_079492.2:n.114-39C>A | |
| XM_011511928.1:c.63-39C>A | XP_011510230.1:n.63-39C>A | |
| XM_011511929.1:c.18-39C>A | XP_011510231.1:n.18-39C>A | |
| XM_011511930.1:c.114-39C>A | XP_011510232.1:n.114-39C>A | |
| XM_011511929.2:c.18-39C>A | XP_011510231.1:n.18-39C>A | |
| NM_025216.3:c.114-39C>A MANE Select | NP_079492.2:n.114-39C>A |