Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31366996T>G , CM000664.2:g.31366996T>G | GRCh38 |
| NC_000002.11:g.31589862T>G , CM000664.1:g.31589862T>G | GRCh37 |
| NC_000002.10:g.31443366T>G | NCBI36 |
| NG_008871.1:g.52750A>C | |
| NG_008871.2:g.52750A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000379.4:c.2198-2A>C MANE Select | NP_000370.2:n.2198-2A>C |
| ENST00000379416.4:c.2198-2A>C MANE Select | ENSP00000368727.3:n.2198-2A>C |
| NM_000379.3:c.2198-2A>C | NP_000370.2:n.2198-2A>C |
| ENST00000379416.3:c.2198-2A>C | ENSP00000368727.3:n.2198-2A>C |
| XM_011533095.1:c.2195-2A>C | XP_011531397.1:n.2195-2A>C |
| XM_011533095.2:c.2195-2A>C | XP_011531397.1:n.2195-2A>C |
| XM_011533096.1:c.2198-2A>C | XP_011531398.1:n.2198-2A>C |
| XM_011533096.2:c.2198-2A>C | XP_011531398.1:n.2198-2A>C |