Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86574374C>A , CM000670.2:g.86574374C>A | GRCh38 |
| NC_000008.10:g.87586602C>A , CM000670.1:g.87586602C>A | GRCh37 |
| NC_000008.9:g.87655718C>A | NCBI36 |
| NG_016980.1:g.174302G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.*1430G>T MANE Select | ENSP00000316605.5:n.*1430G>T | |
| ENST00000681546.1:n.3680G>T | ||
| ENST00000681746.1:c.*2271G>T | ENSP00000505959.1:n.*2271G>T | |
| ENST00000320005.5:c.*1430G>T | ENSP00000316605.5:n.*1430G>T | |
| ENST00000517327.5:c.276+4315G>T | ENSP00000428329.1:n.276+4315G>T | |
| NM_019098.4:c.*1430G>T | NP_061971.3:n.*1430G>T | |
| XM_011517138.1:c.*1430G>T | XP_011515440.1:n.*1430G>T | |
| XM_011517138.2:c.*1430G>T | XP_011515440.1:n.*1430G>T | |
| NM_019098.5:c.*1430G>T MANE Select | NP_061971.3:n.*1430G>T |