Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36701524C>A , CM000684.2:g.36701524C>A | GRCh38 |
| NC_000022.10:g.37097569C>A , CM000684.1:g.37097569C>A | GRCh37 |
| NC_000022.9:g.35427515C>A | NCBI36 |
| NG_031861.1:g.6122G>T | |
| NG_031861.2:g.6335G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.211+842G>T MANE Select | ENSP00000300105.6:n.211+842G>T | |
| ENST00000300105.6:c.211+842G>T | ENSP00000300105.6:n.211+842G>T | |
| NM_006078.3:c.211+842G>T | NP_006069.1:n.211+842G>T | |
| NM_006078.4:c.211+842G>T | NP_006069.1:n.211+842G>T | |
| NM_001379051.1:c.142+842G>T | NP_001365980.1:n.142+842G>T | |
| NM_006078.5:c.211+842G>T MANE Select | NP_006069.1:n.211+842G>T | |
| NR_166440.1:n.1387+842G>T |