Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520385T>C , CM000674.2:g.52520385T>C | GRCh38 |
| NC_000012.11:g.52914169T>C , CM000674.1:g.52914169T>C | GRCh37 |
| NC_000012.10:g.51200436T>C | NCBI36 |
| NG_008297.1:g.5075A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.-89A>G MANE Select | ENSP00000252242.4:n.-89A>G | |
| ENST00000252242.8:c.-89A>G | ENSP00000252242.4:n.-89A>G | |
| ENST00000546577.1:c.-13+12A>G | ENSP00000449651.1:n.-13+12A>G | |
| ENST00000551275.1:c.-89A>G | ENSP00000448041.1:n.-89A>G | |
| ENST00000552629.5:n.10A>G | ||
| NM_000424.3:c.-89A>G | NP_000415.2:n.-89A>G | |
| NM_000424.4:c.-89A>G MANE Select | NP_000415.2:n.-89A>G |