Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308412G>A , CM000685.2:g.30308412G>A | GRCh38 |
| NC_000023.10:g.30326529G>A , CM000685.1:g.30326529G>A | GRCh37 |
| NC_000023.9:g.30236450G>A | NCBI36 |
| NG_009814.1:g.5967C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000475.5:c.952C>T MANE Select | NP_000466.2:p.Gln318Ter |
| ENST00000378970.5:c.952C>T MANE Select | ENSP00000368253.4:p.Gln318Ter |
| NM_000475.4:c.952C>T | NP_000466.2:p.Gln318Ter |
| ENST00000378963.1:c.67C>T | ENSP00000368246.1:p.Gln23Ter |
| ENST00000378970.4:c.952C>T | ENSP00000368253.4:p.Gln318Ter |