Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.83880556T>G , CM000675.2:g.83880556T>G | GRCh38 |
| NC_000013.10:g.84454691T>G , CM000675.1:g.84454691T>G | GRCh37 |
| NC_000013.9:g.83352692T>G | NCBI36 |
| NG_016748.1:g.6838A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001281503.2:c.952A>C MANE Select | NP_001268432.1:p.Lys318Gln |
| ENST00000674365.1:c.952A>C MANE Select | ENSP00000501349.1:p.Lys318Gln |
| NM_001281503.1:c.952A>C | NP_001268432.1:p.Lys318Gln |
| NM_052910.2:c.952A>C | NP_443142.1:p.Lys318Gln |
| ENST00000377084.3:c.952A>C | ENSP00000366288.2:p.Lys318Gln |