Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132090849C>G , CM000670.2:g.132090849C>G | GRCh38 |
| NC_000008.10:g.133103096C>G , CM000670.1:g.133103096C>G | GRCh37 |
| NC_000008.9:g.133172278C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414222.2:c.449-1250G>C MANE Select | ENSP00000388322.1:n.449-1250G>C | |
| ENST00000673615.1:c.557-1250G>C | ENSP00000500443.1:n.557-1250G>C | |
| ENST00000414222.1:c.449-1250G>C | ENSP00000388322.1:n.449-1250G>C | |
| ENST00000434736.6:c.557-1250G>C | ENSP00000407107.2:n.557-1250G>C | |
| NM_001145095.1:c.449-1250G>C | NP_001138567.1:n.449-1250G>C | |
| NM_001145095.3:c.449-1250G>C MANE Select | NP_001138567.1:n.449-1250G>C |