Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117134335G>A , CM000672.2:g.117134335G>A | GRCh38 |
| NC_000010.10:g.118893846G>A , CM000672.1:g.118893846G>A | GRCh37 |
| NC_000010.9:g.118883836G>A | NCBI36 |
| NG_012317.1:g.8967C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001112704.2:c.678C>T MANE Select | NP_001106175.1:p.Ala226= |
| ENST00000369206.6:c.678C>T MANE Select | ENSP00000358207.4:p.Ala226= |
| NM_001112704.1:c.678C>T | NP_001106175.1:p.Ala226= |
| NM_199131.2:c.430-1858C>T | NP_954582.1:n.430-1858C>T |
| NM_199131.3:c.430-1858C>T | NP_954582.1:n.430-1858C>T |
| ENST00000277905.6:c.430-1858C>T | ENSP00000277905.2:n.430-1858C>T |
| ENST00000369206.5:c.678C>T | ENSP00000358207.4:p.Ala226= |