Linked Data
dbSNP Id:
rs148051919
ExAC:
14:77793851 C / T
gnomAD v2:
14-77793851-C-T
gnomAD v3:
14-77327508-C-T
gnomAD v4:
14-77327508-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77327508C>T , CM000676.2:g.77327508C>T | GRCh38 |
| NC_000014.8:g.77793851C>T , CM000676.1:g.77793851C>T | GRCh37 |
| NC_000014.7:g.76863604C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216465.10:c.172C>T MANE Select | ENSP00000216465.5:p.Gln58Ter | |
| ENST00000216465.9:c.172C>T | ENSP00000216465.5:p.Gln58Ter | |
| ENST00000349555.7:c.172C>T | ENSP00000314404.5:p.Gln58Ter | |
| ENST00000361389.8:c.7C>T | ENSP00000354959.4:p.Gln3Ter | |
| ENST00000393734.5:c.7C>T | ENSP00000377335.1:p.Gln3Ter | |
| ENST00000553431.5:n.303C>T | ||
| ENST00000553586.5:c.175C>T | ENSP00000451976.1:p.Gln59Ter | |
| ENST00000553838.5:n.342C>T | ||
| ENST00000554279.5:c.172C>T | ENSP00000452498.1:p.Gln58Ter | |
| ENST00000554846.5:c.7C>T | ENSP00000452531.1:p.Gln3Ter | |
| ENST00000555093.1:n.4221C>T | ||
| ENST00000555583.1:c.7C>T | ENSP00000452346.1:p.Gln3Ter | |
| ENST00000556627.5:c.136-404C>T | ENSP00000450487.1:n.136-404C>T | |
| ENST00000556914.5:n.252C>T | ||
| ENST00000557053.5:c.7C>T | ENSP00000451150.1:p.Gln3Ter | |
| ENST00000557639.5:c.7C>T | ENSP00000451927.1:p.Gln3Ter | |
| NM_001312660.1:c.7C>T | NP_001299589.1:p.Gln3Ter | |
| NM_001513.3:c.7C>T | NP_001504.2:p.Gln3Ter | |
| NM_145870.2:c.172C>T | NP_665877.1:p.Gln58Ter | |
| NM_145871.2:c.172C>T | NP_665878.2:p.Gln58Ter | |
| XM_005267559.2:c.7C>T | XP_005267616.1:p.Gln3Ter | |
| XM_011536670.1:c.-305C>T | XP_011534972.1:n.-305C>T | |
| XM_011536671.1:c.175C>T | XP_011534973.1:p.Gln59Ter | |
| NM_001363703.1:c.175C>T | NP_001350632.1:p.Gln59Ter | |
| XM_011536670.2:c.-305C>T | XP_011534972.1:n.-305C>T | |
| XM_011536671.2:c.175C>T | XP_011534973.1:p.Gln59Ter | |
| XM_024449549.1:c.-305C>T | XP_024305317.1:n.-305C>T | |
| XM_024449550.1:c.7C>T | XP_024305318.1:p.Gln3Ter | |
| XM_024449551.1:c.7C>T | XP_024305319.1:p.Gln3Ter | |
| XM_024449552.1:c.7C>T | XP_024305320.1:p.Gln3Ter | |
| NM_145870.3:c.172C>T MANE Select | NP_665877.1:p.Gln58Ter | |
| NM_001312660.2:c.7C>T | NP_001299589.1:p.Gln3Ter | |
| NM_001363703.2:c.175C>T | NP_001350632.1:p.Gln59Ter | |
| NM_145871.3:c.172C>T | NP_665878.2:p.Gln58Ter |