Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46918319G>T , CM000673.2:g.46918319G>T | GRCh38 |
| NC_000011.9:g.46939870G>T , CM000673.1:g.46939870G>T | GRCh37 |
| NC_000011.8:g.46896446G>T | NCBI36 |
| NG_021394.1:g.5304C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002334.4:c.52+9C>A MANE Select | NP_002325.2:n.52+9C>A |
| ENST00000378623.6:c.52+9C>A MANE Select | ENSP00000367888.1:n.52+9C>A |
| NM_002334.3:c.52+9C>A | NP_002325.2:n.52+9C>A |
| ENST00000378623.5:c.52+9C>A | ENSP00000367888.1:n.52+9C>A |
| ENST00000534404.1:c.52+9C>A | ENSP00000434763.1:n.52+9C>A |
| XM_017017734.1:c.52+9C>A | XP_016873223.1:n.52+9C>A |