Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100187173G>A , CM000663.2:g.100187173G>A | GRCh38 |
| NC_000001.10:g.100652729G>A , CM000663.1:g.100652729G>A | GRCh37 |
| NC_000001.9:g.100425317G>A | NCBI36 |
| NG_011852.2:g.67681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370132.8:c.*9082C>T MANE Select | ENSP00000359151.3:n.*9082C>T | |
| NM_001918.3:c.*9082C>T | NP_001909.3:n.*9082C>T | |
| NM_001918.4:c.*9082C>T | NP_001909.3:n.*9082C>T | |
| NM_001918.5:c.*9082C>T MANE Select | NP_001909.4:n.*9082C>T | |
| NM_001399969.1:c.*9082C>T | NP_001386898.1:n.*9082C>T | |
| NM_001399972.1:c.*9082C>T | NP_001386901.1:n.*9082C>T | |
| NR_174363.1:n.10363C>T | ||
| NR_174364.1:n.10704C>T | ||
| NR_174365.1:n.10328C>T | ||
| NR_174366.1:n.10630C>T |