gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201289477C>A , CM000664.2:g.201289477C>A | GRCh38 |
| NC_000002.11:g.202154200C>A , CM000664.1:g.202154200C>A | GRCh37 |
| NC_000002.10:g.201862445C>A | NCBI36 |
| NG_007497.1:g.61020C>A , LRG_34:g.61020C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696069.1:c.1259+4160C>A (CASP8) | ENSP00000512371.1:n.1259+4160C>A | |
| ENST00000392257.8:c.1122G>T (FLACC1) MANE Select | ENSP00000376086.3:p.Thr374= | |
| ENST00000286190.9:c.1191G>T (FLACC1) | ENSP00000286190.5:p.Thr397= | |
| ENST00000392257.7:c.1122G>T (FLACC1) | ENSP00000376086.3:p.Thr374= | |
| ENST00000405148.6:c.1191G>T (FLACC1) | ENSP00000385098.2:p.Thr397= | |
| ENST00000415745.5:c.356+219G>T (FLACC1) | ||
| ENST00000439709.5:c.1122G>T (FLACC1) | ENSP00000412073.1:p.Thr374= | |
| ENST00000494171.5:n.1698G>T (FLACC1) | ||
| ENST00000494223.1:n.117G>T (FLACC1) | ||
| NM_001127391.2:c.1122G>T (FLACC1) | NP_001120863.1:p.Thr374= | |
| NM_001289993.1:c.1122G>T (FLACC1) | NP_001276922.1:p.Thr374= | |
| NM_139163.3:c.1191G>T (FLACC1) | NP_631902.2:p.Thr397= | |
| NR_110620.1:n.1752G>T (FLACC1) | ||
| XM_011510606.1:c.1137G>T (FLACC1) | XP_011508908.1:p.Thr379= | |
| XM_011510607.1:c.1191G>T (FLACC1) | XP_011508909.1:p.Thr397= | |
| XM_011510608.1:c.1191G>T (FLACC1) | XP_011508910.1:p.Thr397= | |
| XM_011510609.1:c.1191G>T (FLACC1) | XP_011508911.1:p.Thr397= | |
| XM_011510610.1:c.882G>T (FLACC1) | XP_011508912.1:p.Thr294= | |
| XM_011510612.1:c.564G>T (FLACC1) | XP_011508914.1:p.Thr188= | |
| XM_011510606.3:c.1137G>T (FLACC1) | XP_011508908.1:p.Thr379= | |
| XM_011510610.3:c.882G>T (FLACC1) | XP_011508912.1:p.Thr294= | |
| XM_011510612.3:c.564G>T (FLACC1) | XP_011508914.1:p.Thr188= | |
| XM_017003362.2:c.564G>T (FLACC1) | XP_016858851.1:p.Thr188= | |
| XM_024452696.1:c.1191G>T (FLACC1) | XP_024308464.1:p.Thr397= | |
| XM_024452697.1:c.1122G>T (FLACC1) | XP_024308465.1:p.Thr374= | |
| NM_001127391.3:c.1122G>T (FLACC1) MANE Select | NP_001120863.1:p.Thr374= | |
| NM_001289993.2:c.1122G>T (FLACC1) | NP_001276922.1:p.Thr374= | |
| NR_110620.2:n.1699G>T (FLACC1) | ||
| NM_139163.4:c.1191G>T (FLACC1) | NP_631902.2:p.Thr397= |