Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129447G= , CM000664.2:g.208129447G= | GRCh38 |
| NC_000002.11:g.208994171G= , CM000664.1:g.208994171G= | GRCh37 |
| NC_000002.10:g.208702416G= | NCBI36 |
| NG_008038.1:g.5384C= | |
| NG_008039.1:g.143C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.246C= MANE Select | ENSP00000282141.3:p.Ile82= | |
| ENST00000282141.3:c.246C= | ENSP00000282141.3:p.Ile82= | |
| NM_020989.3:c.246C= | NP_066269.1:p.Ile82= | |
| NR_038437.1:n.98-7609G= | ||
| XM_011510661.1:c.246C= | XP_011508963.1:p.Ile82= | |
| XM_011510662.1:c.246C= | XP_011508964.1:p.Ile82= | |
| XM_011510663.1:c.117C= | XP_011508965.1:p.Ile39= | |
| NM_020989.4:c.246C= MANE Select | NP_066269.1:p.Ile82= |