Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425362C>T , CM000664.2:g.84425362C>T | GRCh38 |
| NC_000002.11:g.84652486C>T , CM000664.1:g.84652486C>T | GRCh37 |
| NC_000002.10:g.84505997C>T | NCBI36 |
| NG_016755.1:g.39101G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.1014+53G>A MANE Select | ENSP00000377446.2:n.1014+53G>A | |
| ENST00000651342.1:c.*454+53G>A | ENSP00000498471.1:n.*454+53G>A | |
| ENST00000393868.6:c.1014+53G>A | ENSP00000377446.2:n.1014+53G>A | |
| ENST00000484365.1:n.1522+53G>A | ||
| ENST00000491123.5:n.860+53G>A | ||
| NM_003849.3:c.1014+53G>A | NP_003840.2:n.1014+53G>A | |
| NM_003849.4:c.1014+53G>A MANE Select | NP_003840.2:n.1014+53G>A |