Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304465A>T , CM000685.2:g.30304465A>T | GRCh38 |
| NC_000023.10:g.30322582A>T , CM000685.1:g.30322582A>T | GRCh37 |
| NC_000023.9:g.30232503A>T | NCBI36 |
| NG_009814.1:g.9914T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.*114T>A MANE Select | ENSP00000368253.4:n.*114T>A | |
| ENST00000378970.4:c.*114T>A | ENSP00000368253.4:n.*114T>A | |
| NM_000475.4:c.*114T>A | NP_000466.2:n.*114T>A | |
| NM_000475.5:c.*114T>A MANE Select | NP_000466.2:n.*114T>A |