dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.61240490T>G , CM000670.2:g.61240490T>G | GRCh38 |
| NC_000008.10:g.62153049T>G , CM000670.1:g.62153049T>G | GRCh37 |
| NC_000008.9:g.62315603T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522621.1:c.-151-59187T>G | ENSP00000428986.1:n.-151-59187T>G | |
| XM_011517472.1:c.-151-59187T>G | XP_011515774.1:n.-151-59187T>G | |
| XM_017013141.2:c.-151-59187T>G | XP_016868630.1:n.-151-59187T>G | |
| XM_024447079.1:c.-288-51828T>G | XP_024302847.1:n.-288-51828T>G |