Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.61240115T>C , CM000670.2:g.61240115T>C | GRCh38 |
| NC_000008.10:g.62152674T>C , CM000670.1:g.62152674T>C | GRCh37 |
| NC_000008.9:g.62315228T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000522621.1:c.-151-59562T>C | ENSP00000428986.1:n.-151-59562T>C |
| XM_011517472.1:c.-151-59562T>C | XP_011515774.1:n.-151-59562T>C |
| XM_017013141.2:c.-151-59562T>C | XP_016868630.1:n.-151-59562T>C |
| XM_024447079.1:c.-288-52203T>C | XP_024302847.1:n.-288-52203T>C |