Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10405464C>G , CM000682.2:g.10405464C>G | GRCh38 |
| NC_000020.10:g.10386112C>G , CM000682.1:g.10386112C>G | GRCh37 |
| NC_000020.9:g.10334112C>G | NCBI36 |
| NG_009109.1:g.33755G>C | |
| NG_009109.2:g.33755G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.1496G>C | ENSP00000498849.1:p.Cys499Ser | |
| ENST00000652676.1:n.1140G>C | ||
| ENST00000347364.7:c.1496G>C MANE Select | ENSP00000246062.4:p.Cys499Ser | |
| ENST00000399054.6:c.1496G>C | ENSP00000382008.2:p.Cys499Ser | |
| NM_018848.3:c.1496G>C | NP_061336.1:p.Cys499Ser | |
| NM_170784.2:c.1496G>C | NP_740754.1:p.Cys499Ser | |
| NR_072977.1:n.874G>C | ||
| NR_072977.2:n.857G>C | ||
| NM_170784.3:c.1496G>C MANE Select | NP_740754.1:p.Cys499Ser |