Linked Data
dbSNP Id:
rs147647378
gnomAD v2:
11-95866765-G-T
gnomAD v3:
11-96133601-G-T
gnomAD v4:
11-96133601-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.96133601G>T , CM000673.2:g.96133601G>T | GRCh38 |
| NC_000011.9:g.95866765G>T , CM000673.1:g.95866765G>T | GRCh37 |
| NC_000011.8:g.95506413G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524717.6:c.514-40084C>A MANE Select | ENSP00000434552.1:n.514-40084C>A | |
| ENST00000524717.5:c.514-40084C>A | ENSP00000434552.1:n.514-40084C>A | |
| NM_032427.3:c.514-40084C>A | NP_115803.1:n.514-40084C>A | |
| XM_011543023.1:c.73-40084C>A | XP_011541325.1:n.73-40084C>A | |
| XM_011543024.1:c.-171-40084C>A | XP_011541326.1:n.-171-40084C>A | |
| XM_011543025.1:c.514-40084C>A | XP_011541327.1:n.514-40084C>A | |
| XM_011543023.3:c.73-40084C>A | XP_011541325.1:n.73-40084C>A | |
| XM_011543024.3:c.-171-40084C>A | XP_011541326.1:n.-171-40084C>A | |
| XM_011543025.2:c.514-40084C>A | XP_011541327.1:n.514-40084C>A | |
| NM_032427.4:c.514-40084C>A MANE Select | NP_115803.1:n.514-40084C>A |