Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50150131C>T , CM000676.2:g.50150131C>T | GRCh38 |
| NC_000014.8:g.50616849C>T , CM000676.1:g.50616849C>T | GRCh37 |
| NC_000014.7:g.49686599C>T | NCBI36 |
| NG_051073.1:g.86563G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.2261G>A MANE Select | NP_008870.2:p.Ser754Asn |
| ENST00000216373.10:c.2261G>A MANE Select | ENSP00000216373.5:p.Ser754Asn |
| NM_006939.2:c.2261G>A | NP_008870.2:p.Ser754Asn |
| NM_006939.3:c.2261G>A | NP_008870.2:p.Ser754Asn |
| ENST00000216373.9:c.2261G>A | ENSP00000216373.5:p.Ser754Asn |
| ENST00000543680.5:c.2162G>A | ENSP00000445328.1:p.Ser721Asn |
| XM_005268021.1:c.2081G>A | XP_005268078.1:p.Ser694Asn |
| XM_011537103.1:c.2222G>A | XP_011535405.1:p.Ser741Asn |
| XM_011537104.1:c.2261G>A | XP_011535406.1:p.Ser754Asn |