Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709719A= , CM000663.2:g.114709719A= | GRCh38 |
| NC_000001.10:g.115252340A= , CM000663.1:g.115252340A= | GRCh37 |
| NC_000001.9:g.115053863A= | NCBI36 |
| NG_007572.1:g.12176T= , LRG_92:g.12176T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.300T= MANE Select | ENSP00000358548.4:p.Ile100= | |
| ENST00000369535.4:c.300T= | ENSP00000358548.4:p.Ile100= | |
| NM_002524.4:c.300T= | NP_002515.1:p.Ile100= | |
| NM_002524.5:c.300T= MANE Select | NP_002515.1:p.Ile100= |