Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18672055A= , CM000685.2:g.18672055A= | GRCh38 |
| NC_000023.10:g.18690175A= , CM000685.1:g.18690175A= | GRCh37 |
| NC_000023.9:g.18600096A= | NCBI36 |
| NG_008659.3:g.10394T= , LRG_702:g.10394T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.14T= MANE Select | ENSP00000369320.3:p.Ile5= | |
| ENST00000379984.3:c.14T= | ENSP00000369320.3:p.Ile5= | |
| NM_000330.3:c.14T= , LRG_702t1:c.14T= | NP_000321.1:p.Ile5= | |
| NM_000330.4:c.14T= MANE Select | NP_000321.1:p.Ile5= |