Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39504092G>A , CM000681.2:g.39504092G>A | GRCh38 |
| NC_000019.9:g.39994732G>A , CM000681.1:g.39994732G>A | GRCh37 |
| NC_000019.8:g.44686572G>A | NCBI36 |
| NG_008256.1:g.10176G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.674G>A MANE Select | ENSP00000348810.4:p.Ser225Asn | |
| ENST00000205143.4:c.674G>A | ENSP00000205143.3:p.Ser225Asn | |
| ENST00000356433.9:c.674G>A | ENSP00000348810.4:p.Ser225Asn | |
| ENST00000596614.5:c.410-2947G>A | ENSP00000471688.1:n.410-2947G>A | |
| ENST00000600437.1:n.754G>A | ||
| NM_016941.3:c.674G>A | NP_058637.1:p.Ser225Asn | |
| NM_203486.2:c.674G>A | NP_982353.1:p.Ser225Asn | |
| NM_016941.4:c.674G>A | NP_058637.1:p.Ser225Asn | |
| NM_203486.3:c.674G>A MANE Select | NP_982353.1:p.Ser225Asn |