Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6885470A>G , CM000686.2:g.6885470A>G | GRCh38 |
| NC_000024.9:g.6753511A>G , CM000686.1:g.6753511A>G | GRCh37 |
| NC_000024.8:g.6813511A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651267.2:c.-112-11399T>C MANE Select | ENSP00000498344.1:n.-112-11399T>C | |
| ENST00000651267.1:c.-112-11399T>C | ENSP00000498344.1:n.-112-11399T>C | |
| XM_011531472.1:c.-112-11399T>C | XP_011529774.1:n.-112-11399T>C | |
| NM_001143.2:c.-112-11399T>C MANE Select | NP_001134.1:n.-112-11399T>C |