Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117134389C>T , CM000672.2:g.117134389C>T | GRCh38 |
| NC_000010.10:g.118893900C>T , CM000672.1:g.118893900C>T | GRCh37 |
| NC_000010.9:g.118883890C>T | NCBI36 |
| NG_012317.1:g.8913G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001112704.2:c.624G>A MANE Select | NP_001106175.1:p.Ala208= |
| ENST00000369206.6:c.624G>A MANE Select | ENSP00000358207.4:p.Ala208= |
| NM_001112704.1:c.624G>A | NP_001106175.1:p.Ala208= |
| NM_199131.2:c.430-1912G>A | NP_954582.1:n.430-1912G>A |
| NM_199131.3:c.430-1912G>A | NP_954582.1:n.430-1912G>A |
| ENST00000277905.6:c.430-1912G>A | ENSP00000277905.2:n.430-1912G>A |
| ENST00000369206.5:c.624G>A | ENSP00000358207.4:p.Ala208= |