Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117134068G>A , CM000672.2:g.117134068G>A | GRCh38 |
| NC_000010.10:g.118893579G>A , CM000672.1:g.118893579G>A | GRCh37 |
| NC_000010.9:g.118883569G>A | NCBI36 |
| NG_012317.1:g.9234C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001112704.2:c.945C>T MANE Select | NP_001106175.1:p.Ala315= |
| ENST00000369206.6:c.945C>T MANE Select | ENSP00000358207.4:p.Ala315= |
| NM_001112704.1:c.945C>T | NP_001106175.1:p.Ala315= |
| NM_199131.2:c.430-1591C>T | NP_954582.1:n.430-1591C>T |
| NM_199131.3:c.430-1591C>T | NP_954582.1:n.430-1591C>T |
| ENST00000277905.6:c.430-1591C>T | ENSP00000277905.2:n.430-1591C>T |
| ENST00000369206.5:c.945C>T | ENSP00000358207.4:p.Ala315= |