Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308516T>G , CM000685.2:g.30308516T>G | GRCh38 |
| NC_000023.10:g.30326633T>G , CM000685.1:g.30326633T>G | GRCh37 |
| NC_000023.9:g.30236554T>G | NCBI36 |
| NG_009814.1:g.5863A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000475.5:c.848A>C MANE Select | NP_000466.2:p.Gln283Pro |
| ENST00000378970.5:c.848A>C MANE Select | ENSP00000368253.4:p.Gln283Pro |
| NM_000475.4:c.848A>C | NP_000466.2:p.Gln283Pro |
| ENST00000378970.4:c.848A>C | ENSP00000368253.4:p.Gln283Pro |