Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954171T= , CM000670.2:g.19954171T= | GRCh38 |
| NC_000008.10:g.19811682T= , CM000670.1:g.19811682T= | GRCh37 |
| NC_000008.9:g.19855962T= | NCBI36 |
| NG_008855.1:g.20101T= | |
| NG_008855.2:g.57455T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.593T= MANE Select | ENSP00000497642.1:p.Leu198= | |
| ENST00000311322.8:c.593T= | ENSP00000309757.6:p.Leu198= | |
| NM_000237.2:c.593T= | NP_000228.1:p.Leu198= | |
| NM_000237.3:c.593T= MANE Select | NP_000228.1:p.Leu198= |