Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21737597C>T , CM000685.2:g.21737597C>T | GRCh38 |
| NC_000023.10:g.21755715C>T , CM000685.1:g.21755715C>T | GRCh37 |
| NC_000023.9:g.21665636C>T | NCBI36 |
| NG_031916.1:g.25564G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014332.3:c.233G>A MANE Select | NP_055147.1:p.Ser78Asn |
| ENST00000379494.4:c.233G>A MANE Select | ENSP00000368808.3:p.Ser78Asn |
| NM_014332.2:c.233G>A | NP_055147.1:p.Ser78Asn |
| NR_045617.1:n.464G>A | |
| NR_045617.2:n.420G>A | |
| ENST00000379494.3:c.233G>A | ENSP00000368808.3:p.Ser78Asn |
| ENST00000494525.1:n.326G>A | |
| ENST00000646008.1:c.233G>A | ENSP00000493671.1:p.Ser78Asn |