Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.541439G>A , CM000681.2:g.541439G>A | GRCh38 |
| NC_000019.9:g.541439G>A , CM000681.1:g.541439G>A | GRCh37 |
| NC_000019.8:g.492439G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215574.9:c.598G>A MANE Select | ENSP00000215574.2:p.Asp200Asn | |
| ENST00000215574.8:c.598G>A | ENSP00000215574.2:p.Asp200Asn | |
| ENST00000586283.6:c.494G>A | ||
| ENST00000593036.4:n.137G>A | ||
| ENST00000606065.3:c.414G>A | ENSP00000475610.1:n.414G>A | |
| ENST00000606400.3:n.296G>A | ||
| ENST00000607527.5:c.211G>A | ENSP00000476107.2:p.Asp71Asn | |
| NM_004359.1:c.598G>A | NP_004350.1:p.Asp200Asn | |
| XM_006722952.2:c.*54G>A | XP_006723015.1:n.*54G>A | |
| NM_004359.2:c.598G>A MANE Select | NP_004350.1:p.Asp200Asn |