Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23862246T>C , CM000675.2:g.23862246T>C | GRCh38 |
| NC_000013.10:g.24436385T>C , CM000675.1:g.24436385T>C | GRCh37 |
| NC_000013.9:g.23334385T>C | NCBI36 |
| NG_052977.1:g.32203A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382172.4:c.1053+56A>G MANE Select | ENSP00000371607.3:n.1053+56A>G | |
| ENST00000382172.3:c.1053+56A>G | ENSP00000371607.3:n.1053+56A>G | |
| ENST00000494139.1:n.450+56A>G | ||
| NM_005932.3:c.1053+56A>G | NP_005923.2:n.1053+56A>G | |
| XM_011535097.1:c.867+56A>G | XP_011533399.1:n.867+56A>G | |
| XM_011535098.1:c.1053+56A>G | XP_011533400.1:n.1053+56A>G | |
| XM_011535097.2:c.867+56A>G | XP_011533399.1:n.867+56A>G | |
| XM_011535098.3:c.1053+56A>G | XP_011533400.1:n.1053+56A>G | |
| NM_005932.4:c.1053+56A>G MANE Select | NP_005923.3:n.1053+56A>G |