Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412791C>G , CM000682.2:g.10412791C>G | GRCh38 |
| NC_000020.10:g.10393439C>G , CM000682.1:g.10393439C>G | GRCh37 |
| NC_000020.9:g.10341439C>G | NCBI36 |
| NG_009109.1:g.26428G>C | |
| NG_009109.2:g.26428G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_170784.3:c.724G>C MANE Select | NP_740754.1:p.Ala242Pro |
| ENST00000347364.7:c.724G>C MANE Select | ENSP00000246062.4:p.Ala242Pro |
| NM_018848.3:c.724G>C | NP_061336.1:p.Ala242Pro |
| NM_170784.2:c.724G>C | NP_740754.1:p.Ala242Pro |
| NR_072977.1:n.364-3988G>C | |
| NR_072977.2:n.347-3988G>C | |
| ENST00000399054.6:c.724G>C | ENSP00000382008.2:p.Ala242Pro |
| ENST00000651692.1:c.724G>C | ENSP00000498849.1:p.Ala242Pro |
| ENST00000652676.1:n.459-91G>C |