Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308425C>A , CM000685.2:g.30308425C>A | GRCh38 |
| NC_000023.10:g.30326542C>A , CM000685.1:g.30326542C>A | GRCh37 |
| NC_000023.9:g.30236463C>A | NCBI36 |
| NG_009814.1:g.5954G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000475.5:c.939G>T MANE Select | NP_000466.2:p.Glu313Asp |
| ENST00000378970.5:c.939G>T MANE Select | ENSP00000368253.4:p.Glu313Asp |
| NM_000475.4:c.939G>T | NP_000466.2:p.Glu313Asp |
| ENST00000378963.1:c.54G>T | ENSP00000368246.1:p.Glu18Asp |
| ENST00000378970.4:c.939G>T | ENSP00000368253.4:p.Glu313Asp |