Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28344595G>A , CM000679.2:g.28344595G>A | GRCh38 |
| NC_000017.10:g.26671621G>A , CM000679.1:g.26671621G>A | GRCh37 |
| NC_000017.9:g.23695748G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021137.5:c.946G>A MANE Select | NP_066960.1:p.Asp316Asn |
| ENST00000226225.7:c.946G>A MANE Select | ENSP00000226225.2:p.Asp316Asn |
| NM_021137.4:c.946G>A | NP_066960.1:p.Asp316Asn |
| ENST00000226225.6:c.946G>A | ENSP00000226225.2:p.Asp316Asn |
| ENST00000544907.6:c.634G>A | ENSP00000440749.2:p.Asp212Asn |
| XM_017024993.2:c.1068G>A | XP_016880482.1:p.Ala356= |