Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31365546T>C , CM000664.2:g.31365546T>C | GRCh38 |
| NC_000002.11:g.31588412T>C , CM000664.1:g.31588412T>C | GRCh37 |
| NC_000002.10:g.31441916T>C | NCBI36 |
| NG_008871.1:g.54200A>G | |
| NG_008871.2:g.54200A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000379.4:c.2457-2A>G MANE Select | NP_000370.2:n.2457-2A>G |
| ENST00000379416.4:c.2457-2A>G MANE Select | ENSP00000368727.3:n.2457-2A>G |
| NM_000379.3:c.2457-2A>G | NP_000370.2:n.2457-2A>G |
| ENST00000379416.3:c.2457-2A>G | ENSP00000368727.3:n.2457-2A>G |
| XM_011533095.1:c.2454-2A>G | XP_011531397.1:n.2454-2A>G |
| XM_011533095.2:c.2454-2A>G | XP_011531397.1:n.2454-2A>G |
| XM_011533096.1:c.2457-2A>G | XP_011531398.1:n.2457-2A>G |
| XM_011533096.2:c.2457-2A>G | XP_011531398.1:n.2457-2A>G |