Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308335C>T , CM000685.2:g.30308335C>T | GRCh38 |
| NC_000023.10:g.30326452C>T , CM000685.1:g.30326452C>T | GRCh37 |
| NC_000023.9:g.30236373C>T | NCBI36 |
| NG_009814.1:g.6044G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000475.5:c.1029G>A MANE Select | NP_000466.2:p.Leu343= |
| ENST00000378970.5:c.1029G>A MANE Select | ENSP00000368253.4:p.Leu343= |
| NM_000475.4:c.1029G>A | NP_000466.2:p.Leu343= |
| ENST00000378963.1:c.144G>A | ENSP00000368246.1:p.Leu48= |
| ENST00000378970.4:c.1029G>A | ENSP00000368253.4:p.Leu343= |