Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49635743C>T , CM000681.2:g.49635743C>T | GRCh38 |
| NC_000019.9:g.50139000C>T , CM000681.1:g.50139000C>T | GRCh37 |
| NC_000019.8:g.54830812C>T | NCBI36 |
| NG_042222.1:g.9401G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006270.5:c.563G>A MANE Select | NP_006261.1:p.Arg188Gln |
| ENST00000246792.4:c.563G>A MANE Select | ENSP00000246792.2:p.Arg188Gln |
| NM_006270.3:c.563G>A | NP_006261.1:p.Arg188Gln |
| NM_006270.4:c.563G>A | NP_006261.1:p.Arg188Gln |
| ENST00000246792.3:c.563G>A | ENSP00000246792.2:p.Arg188Gln |