Linked Data
gnomAD v4:
2-218893324-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893324C>G , CM000664.2:g.218893324C>G | GRCh38 |
| NC_000002.11:g.219758046C>G , CM000664.1:g.219758046C>G | GRCh37 |
| NC_000002.10:g.219466290C>G | NCBI36 |
| NG_012179.1:g.17792C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.*53C>G MANE Select | ENSP00000258411.3:n.*53C>G | |
| ENST00000258411.7:c.*53C>G | ENSP00000258411.3:n.*53C>G | |
| ENST00000489887.1:n.47+57C>G | ||
| NM_025216.2:c.*53C>G | NP_079492.2:n.*53C>G | |
| XM_011511928.1:c.*53C>G | XP_011510230.1:n.*53C>G | |
| XM_011511929.1:c.*53C>G | XP_011510231.1:n.*53C>G | |
| XM_011511930.1:c.*27C>G | XP_011510232.1:n.*27C>G | |
| XM_011511929.2:c.*53C>G | XP_011510231.1:n.*53C>G | |
| NM_025216.3:c.*53C>G MANE Select | NP_079492.2:n.*53C>G |