Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129529T>G , CM000664.2:g.208129529T>G | GRCh38 |
| NC_000002.11:g.208994253T>G , CM000664.1:g.208994253T>G | GRCh37 |
| NC_000002.10:g.208702498T>G | NCBI36 |
| NG_008038.1:g.5302A>C | |
| NG_008039.1:g.61A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.164A>C MANE Select | ENSP00000282141.3:p.Gln55Pro | |
| ENST00000282141.3:c.164A>C | ENSP00000282141.3:p.Gln55Pro | |
| NM_020989.3:c.164A>C | NP_066269.1:p.Gln55Pro | |
| NR_038437.1:n.98-7527T>G | ||
| XM_011510661.1:c.164A>C | XP_011508963.1:p.Gln55Pro | |
| XM_011510662.1:c.164A>C | XP_011508964.1:p.Gln55Pro | |
| XM_011510663.1:c.35A>C | XP_011508965.1:p.Gln12Pro | |
| NM_020989.4:c.164A>C MANE Select | NP_066269.1:p.Gln55Pro |