Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100187703T>A , CM000663.2:g.100187703T>A | GRCh38 |
| NC_000001.10:g.100653259T>A , CM000663.1:g.100653259T>A | GRCh37 |
| NC_000001.9:g.100425847T>A | NCBI36 |
| NG_011852.2:g.67151A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001918.5:c.*8552A>T MANE Select | NP_001909.4:n.*8552A>T |
| ENST00000370132.8:c.*8552A>T MANE Select | ENSP00000359151.3:n.*8552A>T |
| NM_001399969.1:c.*8552A>T | NP_001386898.1:n.*8552A>T |
| NM_001399972.1:c.*8552A>T | NP_001386901.1:n.*8552A>T |
| NM_001918.3:c.*8552A>T | NP_001909.3:n.*8552A>T |
| NM_001918.4:c.*8552A>T | NP_001909.3:n.*8552A>T |
| NR_174363.1:n.9833A>T | |
| NR_174364.1:n.10174A>T | |
| NR_174365.1:n.9798A>T | |
| NR_174366.1:n.10100A>T |