Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.118729785A= , CM000685.2:g.118729785A= | GRCh38 |
| NC_000023.10:g.117863748A= , CM000685.1:g.117863748A= | GRCh37 |
| NC_000023.9:g.117747776A= | NCBI36 |
| NG_012841.1:g.7190A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371666.8:c.88+2059A= MANE Select | ENSP00000360730.3:n.88+2059A= | |
| ENST00000652600.1:c.-1+2423A= | ENSP00000498980.1:n.-1+2423A= | |
| ENST00000371642.1:c.88+2059A= | ENSP00000360705.1:n.88+2059A= | |
| ENST00000371666.7:c.88+2059A= | ENSP00000360730.3:n.88+2059A= | |
| NM_001560.2:c.88+2059A= | NP_001551.1:n.88+2059A= | |
| XM_011531336.1:c.394+2423A= | XP_011529638.1:n.394+2423A= | |
| XM_017029507.1:c.-197+2059A= | XP_016884996.1:n.-197+2059A= | |
| NM_001560.3:c.88+2059A= MANE Select | NP_001551.1:n.88+2059A= |