Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033563G>A , CM000666.2:g.52033563G>A | GRCh38 |
| NC_000004.11:g.52899729G>A , CM000666.1:g.52899729G>A | GRCh37 |
| NC_000004.10:g.52594486G>A | NCBI36 |
| NG_008891.1:g.9757C>T , LRG_204:g.9757C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.111C>T MANE Select | NP_000223.1:p.Asn37= |
| ENST00000381431.10:c.111C>T MANE Select | ENSP00000370839.6:p.Asn37= |
| NM_000232.4:c.111C>T , LRG_204t1:c.111C>T | NP_000223.1:p.Asn37= |
| ENST00000381431.9:c.111C>T | ENSP00000370839.5:p.Asn37= |
| ENST00000506357.5:c.97C>T | |
| ENST00000514133.1:c.78C>T | ENSP00000425818.1:p.Asn26= |
| XM_011534403.1:c.34-3700C>T | XP_011532705.1:n.34-3700C>T |