Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117137931G>A , CM000672.2:g.117137931G>A | GRCh38 |
| NC_000010.10:g.118897442G>A , CM000672.1:g.118897442G>A | GRCh37 |
| NC_000010.9:g.118887432G>A | NCBI36 |
| NG_012317.1:g.5371C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001112704.2:c.126C>T MANE Select | NP_001106175.1:p.Ala42= |
| ENST00000369206.6:c.126C>T MANE Select | ENSP00000358207.4:p.Ala42= |
| NM_001112704.1:c.126C>T | NP_001106175.1:p.Ala42= |
| NM_199131.2:c.126C>T | NP_954582.1:p.Ala42= |
| NM_199131.3:c.126C>T | NP_954582.1:p.Ala42= |
| ENST00000277905.6:c.126C>T | ENSP00000277905.2:p.Ala42= |
| ENST00000369206.5:c.126C>T | ENSP00000358207.4:p.Ala42= |