dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121959570T>A , CM000674.2:g.121959570T>A | GRCh38 |
| NC_000012.11:g.122397476T>A , CM000674.1:g.122397476T>A | GRCh37 |
| NC_000012.10:g.120881859T>A | NCBI36 |
| NG_021364.1:g.46014T>A | |
| NG_021364.2:g.46014T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288912.9:c.2133+476T>A MANE Select | ENSP00000288912.4:n.2133+476T>A | |
| ENST00000288912.8:c.2133+476T>A | ENSP00000288912.4:n.2133+476T>A | |
| ENST00000397454.2:c.2133+476T>A | ENSP00000380595.2:n.2133+476T>A | |
| ENST00000535257.1:n.2714T>A | ||
| NM_001178003.1:c.2133+476T>A | NP_001171474.1:n.2133+476T>A | |
| NM_144668.5:c.2133+476T>A | NP_653269.3:n.2133+476T>A | |
| NM_144668.6:c.2133+476T>A MANE Select | NP_653269.3:n.2133+476T>A | |
| NM_001178003.2:c.2133+476T>A | NP_001171474.1:n.2133+476T>A |