Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750550T>G , CM000684.2:g.27750550T>G | GRCh38 |
| NC_000022.10:g.28146538T>G , CM000684.1:g.28146538T>G | GRCh37 |
| NC_000022.9:g.26476538T>G | NCBI36 |
| NG_023258.1:g.55949A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.853A>C | ||
| ENST00000302326.5:c.*365A>C MANE Select | ENSP00000304956.4:n.*365A>C | |
| ENST00000302326.4:c.*365A>C | ENSP00000304956.4:n.*365A>C | |
| ENST00000424656.1:c.455+226A>C | ||
| NM_002430.2:c.*365A>C | NP_002421.3:n.*365A>C | |
| NM_002430.3:c.*365A>C MANE Select | NP_002421.3:n.*365A>C |