Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23862233G>A , CM000675.2:g.23862233G>A | GRCh38 |
| NC_000013.10:g.24436372G>A , CM000675.1:g.24436372G>A | GRCh37 |
| NC_000013.9:g.23334372G>A | NCBI36 |
| NG_052977.1:g.32216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382172.4:c.1053+69C>T MANE Select | ENSP00000371607.3:n.1053+69C>T | |
| ENST00000382172.3:c.1053+69C>T | ENSP00000371607.3:n.1053+69C>T | |
| ENST00000494139.1:n.450+69C>T | ||
| NM_005932.3:c.1053+69C>T | NP_005923.2:n.1053+69C>T | |
| XM_011535097.1:c.867+69C>T | XP_011533399.1:n.867+69C>T | |
| XM_011535098.1:c.1053+69C>T | XP_011533400.1:n.1053+69C>T | |
| XM_011535097.2:c.867+69C>T | XP_011533399.1:n.867+69C>T | |
| XM_011535098.3:c.1053+69C>T | XP_011533400.1:n.1053+69C>T | |
| NM_005932.4:c.1053+69C>T MANE Select | NP_005923.3:n.1053+69C>T |