Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44380102C>T , CM000679.2:g.44380102C>T | GRCh38 |
| NC_000017.10:g.42457470C>T , CM000679.1:g.42457470C>T | GRCh37 |
| NC_000017.9:g.39812996C>T | NCBI36 |
| NG_008331.1:g.14404G>A , LRG_479:g.14404G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.1652G>A MANE Select | NP_000410.2:p.Arg551Gln |
| ENST00000262407.6:c.1652G>A MANE Select | ENSP00000262407.5:p.Arg551Gln |
| NM_000419.3:c.1652G>A , LRG_479t1:c.1652G>A | NP_000410.2:p.Arg551Gln |
| NM_000419.4:c.1652G>A | NP_000410.2:p.Arg551Gln |
| ENST00000262407.5:c.1652G>A | ENSP00000262407.5:p.Arg551Gln |
| ENST00000592226.5:n.1125G>A | |
| ENST00000592462.5:n.447G>A | |
| ENST00000648408.1:c.1083G>A | |
| XM_011524749.1:c.1652G>A | XP_011523051.1:p.Arg551Gln |
| XM_011524750.1:c.1652G>A | XP_011523052.1:p.Arg551Gln |