Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18672015A= , CM000685.2:g.18672015A= | GRCh38 |
| NC_000023.10:g.18690135A= , CM000685.1:g.18690135A= | GRCh37 |
| NC_000023.9:g.18600056A= | NCBI36 |
| NG_008659.3:g.10434T= , LRG_702:g.10434T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.52+2T= MANE Select | ENSP00000369320.3:n.52+2T= | |
| ENST00000379984.3:c.52+2T= | ENSP00000369320.3:n.52+2T= | |
| NM_000330.3:c.52+2T= , LRG_702t1:c.52+2T= | NP_000321.1:n.52+2T= | |
| NM_000330.4:c.52+2T= MANE Select | NP_000321.1:n.52+2T= |