Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567072C= , CM000685.2:g.137567072C= | GRCh38 |
| NC_000023.10:g.136649231C= , CM000685.1:g.136649231C= | GRCh37 |
| NC_000023.9:g.136476897C= | NCBI36 |
| NG_008115.1:g.5886C= | |
| NG_008115.2:g.5946C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.381C= MANE Select | ENSP00000287538.5:p.Leu127= | |
| ENST00000287538.9:c.381C= | ENSP00000287538.5:p.Leu127= | |
| ENST00000370606.3:c.381C= | ENSP00000359638.3:p.Leu127= | |
| NM_003413.3:c.381C= | NP_003404.1:p.Leu127= | |
| NM_001330661.1:c.381C= | NP_001317590.1:p.Leu127= | |
| NM_003413.4:c.381C= MANE Select | NP_003404.1:p.Leu127= |