Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129551G>T , CM000664.2:g.208129551G>T | GRCh38 |
| NC_000002.11:g.208994275G>T , CM000664.1:g.208994275G>T | GRCh37 |
| NC_000002.10:g.208702520G>T | NCBI36 |
| NG_008038.1:g.5280C>A | |
| NG_008039.1:g.39C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.142C>A MANE Select | ENSP00000282141.3:p.Arg48Ser | |
| ENST00000282141.3:c.142C>A | ENSP00000282141.3:p.Arg48Ser | |
| NM_020989.3:c.142C>A | NP_066269.1:p.Arg48Ser | |
| NR_038437.1:n.98-7505G>T | ||
| XM_011510661.1:c.142C>A | XP_011508963.1:p.Arg48Ser | |
| XM_011510662.1:c.142C>A | XP_011508964.1:p.Arg48Ser | |
| XM_011510663.1:c.13C>A | XP_011508965.1:p.Arg5Ser | |
| NM_020989.4:c.142C>A MANE Select | NP_066269.1:p.Arg48Ser |