dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.175176702G>C , CM000664.2:g.175176702G>C | GRCh38 |
| NC_000002.11:g.176041430G>C , CM000664.1:g.176041430G>C | GRCh37 |
| NC_000002.10:g.175749676G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284727.9:c.*1586C>G MANE Select | ENSP00000284727.4:n.*1586C>G | |
| ENST00000284727.8:c.*1586C>G | ENSP00000284727.4:n.*1586C>G | |
| NM_001002258.4:c.*1586C>G | NP_001002258.1:n.*1586C>G | |
| NM_001190329.1:c.*2351C>G | NP_001177258.1:n.*2351C>G | |
| NM_001689.4:c.*1586C>G | NP_001680.1:n.*1586C>G | |
| XR_923595.1:n.1284+8767G>C | ||
| NM_001002258.5:c.*1586C>G | NP_001002258.1:n.*1586C>G | |
| NM_001190329.2:c.*2351C>G | NP_001177258.1:n.*2351C>G | |
| NM_001689.5:c.*1586C>G MANE Select | NP_001680.1:n.*1586C>G |