Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14139205G>A , CM000665.2:g.14139205G>A | GRCh38 |
| NC_000003.11:g.14180705G>A , CM000665.1:g.14180705G>A | GRCh37 |
| NC_000003.10:g.14155706G>A | NCBI36 |
| NG_008975.1:g.19266G>A , LRG_435:g.19266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*938G>A | ENSP00000395617.1:n.*938G>A | |
| ENST00000306077.5:c.908G>A MANE Select | ENSP00000303992.5:p.Ser303Asn | |
| ENST00000306077.4:c.908G>A | ENSP00000303992.4:p.Ser303Asn | |
| ENST00000601399.3:n.235G>A | ||
| ENST00000608606.1:c.144G>A | ||
| NM_024334.2:c.908G>A , LRG_435t1:c.908G>A | NP_077310.1:p.Ser303Asn | |
| XM_011534109.1:c.803G>A | XP_011532411.1:p.Ser268Asn | |
| XM_017007176.2:c.803G>A | XP_016862665.1:p.Ser268Asn | |
| NM_024334.3:c.908G>A MANE Select | NP_077310.1:p.Ser303Asn |