Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083156C>G , CM000682.2:g.3083156C>G | GRCh38 |
| NC_000020.10:g.3063802C>G , CM000682.1:g.3063802C>G | GRCh37 |
| NC_000020.9:g.3011802C>G | NCBI36 |
| NG_008663.1:g.6569G>C , LRG_715:g.6569G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000490.5:c.143G>C MANE Select | NP_000481.2:p.Gly48Ala |
| ENST00000380293.3:c.143G>C MANE Select | ENSP00000369647.3:p.Gly48Ala |
| NM_000490.4:c.143G>C , LRG_715t1:c.143G>C | NP_000481.2:p.Gly48Ala |
| XM_011529267.1:c.143G>C | XP_011527569.1:p.Gly48Ala |
| XM_011529267.2:c.143G>C | XP_011527569.1:p.Gly48Ala |