Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50771523A>G , CM000681.2:g.50771523A>G | GRCh38 |
| NC_000019.9:g.51274780A>G , CM000681.1:g.51274780A>G | GRCh37 |
| NC_000019.8:g.55966592A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001506.2:c.923A>G MANE Select | NP_001497.1:p.Asn308Ser |
| ENST00000270590.4:c.923A>G MANE Select | ENSP00000270590.3:p.Asn308Ser |