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