Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119206423C>G , CM000673.2:g.119206423C>G | GRCh38 |
| NC_000011.9:g.119077133C>G , CM000673.1:g.119077133C>G | GRCh37 |
| NC_000011.8:g.118582343C>G | NCBI36 |
| NG_016808.1:g.5144C>G , LRG_608:g.5144C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005188.4:c.6C>G MANE Select | NP_005179.2:p.Ala2= |
| ENST00000264033.6:c.6C>G MANE Select | ENSP00000264033.3:p.Ala2= |
| NM_005188.3:c.6C>G , LRG_608t1:c.6C>G | NP_005179.2:p.Ala2= |
| ENST00000264033.5:c.6C>G | ENSP00000264033.3:p.Ala2= |
| ENST00000634586.1:c.6C>G | ENSP00000489218.1:p.Ala2= |
| ENST00000634840.1:c.6C>G | ENSP00000489324.1:p.Ala2= |
| ENST00000700472.1:c.6C>G | ENSP00000515005.1:p.Ala2= |
| XM_011543057.1:c.6C>G | XP_011541359.1:p.Ala2= |