dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94398973A>T , CM000673.2:g.94398973A>T | GRCh38 |
| NC_000011.9:g.94132139A>T , CM000673.1:g.94132139A>T | GRCh37 |
| NC_000011.8:g.93771787A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243673.7:c.387+1888T>A MANE Select | ENSP00000243673.2:n.387+1888T>A | |
| ENST00000243673.6:c.387+1888T>A | ENSP00000243673.2:n.387+1888T>A | |
| ENST00000539203.2:c.387+1888T>A | ENSP00000441550.1:n.387+1888T>A | |
| NM_016540.3:c.387+1888T>A | NP_057624.3:n.387+1888T>A | |
| XM_011542559.1:c.387+1888T>A | XP_011540861.1:n.387+1888T>A | |
| NM_001330345.1:c.387+1888T>A | NP_001317274.1:n.387+1888T>A | |
| NM_016540.4:c.387+1888T>A MANE Select | NP_057624.3:n.387+1888T>A | |
| NM_001330345.2:c.387+1888T>A | NP_001317274.1:n.387+1888T>A |