Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126651T>C , CM000681.2:g.9126651T>C | GRCh38 |
| NC_000019.9:g.9237327T>C , CM000681.1:g.9237327T>C | GRCh37 |
| NC_000019.8:g.9098327T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.300A>G MANE Select | ENSP00000302867.2:p.Gln100= | |
| NM_001001958.1:c.300A>G MANE Select | NP_001001958.1:p.Gln100= |