Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038232C>A , CM000666.2:g.52038232C>A | GRCh38 |
| NC_000004.11:g.52904398C>A , CM000666.1:g.52904398C>A | GRCh37 |
| NC_000004.10:g.52599155C>A | NCBI36 |
| NG_008891.1:g.5088G>T , LRG_204:g.5088G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.28G>T MANE Select | ENSP00000370839.6:p.Glu10Ter | |
| ENST00000381431.9:c.28G>T | ENSP00000370839.5:p.Glu10Ter | |
| ENST00000506357.5:c.14G>T | ||
| NM_000232.4:c.28G>T , LRG_204t1:c.28G>T | NP_000223.1:p.Glu10Ter | |
| XM_011534403.1:c.28G>T | XP_011532705.1:p.Glu10Ter | |
| NM_000232.5:c.28G>T MANE Select | NP_000223.1:p.Glu10Ter |