Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954133T= , CM000670.2:g.19954133T= | GRCh38 |
| NC_000008.10:g.19811644T= , CM000670.1:g.19811644T= | GRCh37 |
| NC_000008.9:g.19855924T= | NCBI36 |
| NG_008855.1:g.20063T= | |
| NG_008855.2:g.57417T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.555T= MANE Select | ENSP00000497642.1:p.Ala185= | |
| ENST00000311322.8:c.555T= | ENSP00000309757.6:p.Ala185= | |
| ENST00000520959.5:c.327T= | ENSP00000428496.1:p.Ala109= | |
| NM_000237.2:c.555T= | NP_000228.1:p.Ala185= | |
| NM_000237.3:c.555T= MANE Select | NP_000228.1:p.Ala185= |