Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67932010G>A , CM000666.2:g.67932010G>A | GRCh38 |
| NC_000004.11:g.68797728G>A , CM000666.1:g.68797728G>A | GRCh37 |
| NC_000004.10:g.68480323G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.303C>T MANE Select | ENSP00000426911.2:p.Asn101= | |
| ENST00000334830.11:c.312C>T | ENSP00000334611.7:p.Asn104= | |
| ENST00000396188.3:c.303C>T | ENSP00000379491.3:p.Asn101= | |
| ENST00000508048.5:c.303C>T | ENSP00000426911.2:p.Asn101= | |
| ENST00000513536.5:c.243C>T | ENSP00000427621.1:p.Asn81= | |
| NM_001114387.1:c.303C>T | NP_001107859.1:p.Asn101= | |
| NM_182606.3:c.312C>T | NP_872412.3:p.Asn104= | |
| NM_001114387.2:c.303C>T MANE Select | NP_001107859.1:p.Asn101= | |
| NM_182606.4:c.312C>T | NP_872412.3:p.Asn104= |