Linked Data
ClinVar Variation Id:
282074
dbSNP Id:
rs564074916
ExAC:
8:1728520 C / T
gnomAD v2:
8-1728520-C-T
gnomAD v3:
8-1780354-C-T
gnomAD v4:
8-1780354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1780354C>T , CM000670.2:g.1780354C>T | GRCh38 |
| NC_000008.10:g.1728520C>T , CM000670.1:g.1728520C>T | GRCh37 |
| NC_000008.9:g.1715927C>T | NCBI36 |
| NG_008656.2:g.29577C>T , LRG_691:g.29577C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331222.6:c.648C>T MANE Select | ENSP00000328182.4:p.Phe216= | |
| ENST00000519254.2:c.648C>T | ENSP00000490016.1:p.Phe216= | |
| ENST00000520991.3:c.*59C>T | ENSP00000487905.2:n.*59C>T | |
| ENST00000635751.1:c.648C>T | ENSP00000489694.1:p.Phe216= | |
| ENST00000635773.1:c.496+8757C>T | ||
| ENST00000635855.1:c.543+8757C>T | ENSP00000489726.1:n.543+8757C>T | |
| ENST00000635970.1:c.648C>T | ENSP00000490439.1:p.Phe216= | |
| ENST00000636175.1:c.343+8757C>T | ||
| ENST00000636934.1:c.543+8757C>T | ENSP00000490218.1:n.543+8757C>T | |
| ENST00000637083.1:c.648C>T | ENSP00000490235.1:p.Phe216= | |
| ENST00000637156.1:c.648C>T | ENSP00000490458.1:p.Phe216= | |
| ENST00000331222.4:c.648C>T | ENSP00000328182.4:p.Phe216= | |
| ENST00000519254.1:n.167C>T | ||
| ENST00000523237.1:n.423C>T | ||
| NM_018941.3:c.648C>T , LRG_691t1:c.648C>T | NP_061764.2:p.Phe216= | |
| XM_005266021.3:c.648C>T | XP_005266078.1:p.Phe216= | |
| XM_005266022.1:c.648C>T | XP_005266079.1:p.Phe216= | |
| XM_005266023.1:c.648C>T | XP_005266080.1:p.Phe216= | |
| XM_011534745.1:c.648C>T | XP_011533047.1:p.Phe216= | |
| XM_011534746.1:c.648C>T | XP_011533048.1:p.Phe216= | |
| XM_005266021.4:c.648C>T | XP_005266078.1:p.Phe216= | |
| XM_011534746.2:c.648C>T | XP_011533048.1:p.Phe216= | |
| NM_018941.4:c.648C>T MANE Select | NP_061764.2:p.Phe216= |