Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.19050555A>G , CM000671.2:g.19050555A>G | GRCh38 |
| NC_000009.11:g.19050553A>G , CM000671.1:g.19050553A>G | GRCh37 |
| NC_000009.10:g.19040553A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006570.5:c.896A>G MANE Select | NP_006561.1:p.Lys299Arg |
| ENST00000380527.3:c.896A>G MANE Select | ENSP00000369899.1:p.Lys299Arg |
| NM_006570.4:c.896A>G | NP_006561.1:p.Lys299Arg |
| ENST00000380527.2:c.896A>G | ENSP00000369899.1:p.Lys299Arg |