Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304533C>A , CM000685.2:g.30304533C>A | GRCh38 |
| NC_000023.10:g.30322650C>A , CM000685.1:g.30322650C>A | GRCh37 |
| NC_000023.9:g.30232571C>A | NCBI36 |
| NG_009814.1:g.9846G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.*46G>T MANE Select | ENSP00000368253.4:n.*46G>T | |
| ENST00000378970.4:c.*46G>T | ENSP00000368253.4:n.*46G>T | |
| NM_000475.4:c.*46G>T | NP_000466.2:n.*46G>T | |
| NM_000475.5:c.*46G>T MANE Select | NP_000466.2:n.*46G>T |