Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43421370G>C , CM000683.2:g.43421370G>C | GRCh38 |
| NG_052009.1:g.10763C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173354.5:c.500-3C>G MANE Select | NP_775490.2:n.500-3C>G |
| ENST00000270162.8:c.500-3C>G MANE Select | ENSP00000270162.6:n.500-3C>G |
| NM_173354.3:c.500-3C>G | NP_775490.2:n.500-3C>G |
| NM_173354.4:c.500-3C>G | NP_775490.2:n.500-3C>G |
| ENST00000270162.6:c.500-3C>G | ENSP00000270162.6:n.500-3C>G |
| ENST00000478426.1:n.369-3C>G | |
| ENST00000644689.1:n.302-3C>G | |
| XM_011529474.1:c.500-3C>G | XP_011527776.1:n.500-3C>G |
| XM_011529474.2:c.500-3C>G | XP_011527776.1:n.500-3C>G |