Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004861G>T , CM000685.2:g.25004861G>T | GRCh38 |
| NC_000023.10:g.25022978G>T , CM000685.1:g.25022978G>T | GRCh37 |
| NC_000023.9:g.24932899G>T | NCBI36 |
| NG_008281.1:g.16088C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1498C>A MANE Select | ENSP00000368332.4:p.Leu500Ile | |
| ENST00000636885.1:n.86C>A | ||
| ENST00000379044.4:c.1498C>A | ENSP00000368332.4:p.Leu500Ile | |
| NM_139058.2:c.1498C>A | NP_620689.1:p.Leu500Ile | |
| NM_139058.3:c.1498C>A MANE Select | NP_620689.1:p.Leu500Ile |