Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68132765C>G , CM000664.2:g.68132765C>G | GRCh38 |
| NC_000002.11:g.68359897C>G , CM000664.1:g.68359897C>G | GRCh37 |
| NC_000002.10:g.68213401C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138458.4:c.867-1320G>C MANE Select | NP_612467.1:n.867-1320G>C |
| ENST00000295121.11:c.867-1320G>C MANE Select | ENSP00000295121.6:n.867-1320G>C |
| NM_138458.3:c.867-1320G>C | NP_612467.1:n.867-1320G>C |
| ENST00000295121.10:c.867-1320G>C | ENSP00000295121.6:n.867-1320G>C |
| ENST00000406334.3:c.*884-1320G>C | ENSP00000384974.3:n.*884-1320G>C |
| ENST00000457114.5:c.278-760G>C | |
| ENST00000492039.6:n.857-1320G>C |