Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954979C>G , CM000673.2:g.86954979C>G | GRCh38 |
| NC_000011.9:g.86666021C>G , CM000673.1:g.86666021C>G | GRCh37 |
| NC_000011.8:g.86343669C>G | NCBI36 |
| NG_011752.1:g.5413G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012193.4:c.107G>C MANE Select | NP_036325.2:p.Gly36Ala |
| ENST00000531380.2:c.107G>C MANE Select | ENSP00000434034.1:p.Gly36Ala |
| NM_012193.3:c.107G>C | NP_036325.2:p.Gly36Ala |
| ENST00000531380.1:c.107G>C | ENSP00000434034.1:p.Gly36Ala |