Linked Data
ClinVar Variation Id:
7497
ClinVar RCV Id:
RCV000007926
RCV000190784
RCV000210656
RCV000523082
RCV000690009
RCV001836703
RCV003387437
dbSNP Id:
rs137853063
ExAC:
14:97342370 C / T
gnomAD v2:
14-97342370-C-T
gnomAD v3:
14-96876033-C-T
gnomAD v4:
14-96876033-C-T
MyVariant Identifiers:
chr14:g.97342370C>T (hg19)
chr14:g.97342370_97342374delinsTGAAA (hg19)
chr14:g.96876033C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96876033C>T , CM000676.2:g.96876033C>T | GRCh38 |
| NC_000014.8:g.97342370C>T , CM000676.1:g.97342370C>T | GRCh37 |
| NC_000014.7:g.96412123C>T | NCBI36 |
| NG_016293.1:g.83687C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216639.8:c.1072C>T MANE Select | ENSP00000216639.3:p.Arg358Ter | |
| ENST00000553683.2:c.1072C>T | ENSP00000451412.2:p.Arg358Ter | |
| ENST00000555067.2:n.11126C>T | ||
| ENST00000679365.1:c.1063C>T | ENSP00000505882.1:p.Arg355Ter | |
| ENST00000679462.1:c.1107C>T | ENSP00000506011.1:p.Ser369= | |
| ENST00000679506.1:n.3131C>T | ||
| ENST00000679533.1:c.*845C>T | ENSP00000505873.1:n.*845C>T | |
| ENST00000679650.1:c.*761C>T | ENSP00000505156.1:n.*761C>T | |
| ENST00000679727.1:c.1066C>T | ENSP00000505844.1:p.Arg356Ter | |
| ENST00000679758.1:c.1068+15298C>T | ENSP00000505539.1:n.1068+15298C>T | |
| ENST00000679770.1:c.1072C>T | ENSP00000505214.1:p.Arg358Ter | |
| ENST00000679816.1:c.1072C>T | ENSP00000506525.1:p.Arg358Ter | |
| ENST00000679843.1:c.375C>T | ENSP00000506467.1:n.375C>T | |
| ENST00000679903.1:c.1069-6C>T | ENSP00000506022.1:n.1069-6C>T | |
| ENST00000679918.1:c.1072C>T | ENSP00000505439.1:p.Arg358Ter | |
| ENST00000679941.1:c.1068+15298C>T | ENSP00000506520.1:n.1068+15298C>T | |
| ENST00000679977.1:c.*318C>T | ENSP00000504897.1:n.*318C>T | |
| ENST00000680007.1:c.1072C>T | ENSP00000505683.1:p.Arg358Ter | |
| ENST00000680335.1:c.1068+15298C>T | ENSP00000505806.1:n.1068+15298C>T | |
| ENST00000680387.1:c.1069C>T | ENSP00000504908.1:p.Arg357Ter | |
| ENST00000680526.1:c.*587+15369C>T | ENSP00000505595.1:n.*587+15369C>T | |
| ENST00000680538.1:c.982C>T | ENSP00000505611.1:p.Arg328Ter | |
| ENST00000680683.1:c.1072C>T | ENSP00000506334.1:p.Arg358Ter | |
| ENST00000680724.1:c.1072C>T | ENSP00000504891.1:p.Arg358Ter | |
| ENST00000680756.1:c.1072C>T | ENSP00000506648.1:p.Arg358Ter | |
| ENST00000680849.1:c.1069C>T | ENSP00000505602.1:p.Arg357Ter | |
| ENST00000680851.1:c.1069-5144C>T | ENSP00000505159.1:n.1069-5144C>T | |
| ENST00000680922.1:c.*212+15298C>T | ENSP00000506480.1:n.*212+15298C>T | |
| ENST00000680993.1:c.*432+15298C>T | ENSP00000505511.1:n.*432+15298C>T | |
| ENST00000681061.1:c.692+15298C>T | ||
| ENST00000681101.1:c.1072C>T | ENSP00000506564.1:p.Arg358Ter | |
| ENST00000681195.1:c.1069C>T | ENSP00000504933.1:p.Arg357Ter | |
| ENST00000681249.1:c.1069C>T | ENSP00000506013.1:p.Arg357Ter | |
| ENST00000681344.1:c.1072C>T | ENSP00000506151.1:p.Arg358Ter | |
| ENST00000681355.1:c.1072C>T | ENSP00000506214.1:p.Arg358Ter | |
| ENST00000681363.1:c.*172C>T | ENSP00000505564.1:n.*172C>T | |
| ENST00000681419.1:c.1072C>T | ENSP00000505512.1:p.Arg358Ter | |
| ENST00000681474.1:c.893C>T | ENSP00000505569.1:p.Ala298Val | |
| ENST00000681493.1:c.1066C>T | ENSP00000506429.1:p.Arg356Ter | |
| ENST00000681524.1:c.*216C>T | ENSP00000505783.1:n.*216C>T | |
| ENST00000681538.1:c.*241C>T | ENSP00000506662.1:n.*241C>T | |
| ENST00000681598.1:c.*537+15298C>T | ENSP00000506128.1:n.*537+15298C>T | |
| ENST00000681677.1:c.696C>T | ||
| ENST00000681695.1:c.*662C>T | ENSP00000506225.1:n.*662C>T | |
| ENST00000681778.1:c.1068+15298C>T | ENSP00000506049.1:n.1068+15298C>T | |
| ENST00000216639.7:c.1072C>T | ENSP00000216639.3:p.Arg358Ter | |
| ENST00000553683.1:c.5C>T | ||
| ENST00000555067.1:n.302C>T | ||
| ENST00000557222.5:c.637+15298C>T | ||
| NM_003384.2:c.1072C>T | NP_003375.1:p.Arg358Ter | |
| XM_006720247.2:c.1072C>T | XP_006720310.1:p.Arg358Ter | |
| XM_011537132.1:c.1069C>T | XP_011535434.1:p.Arg357Ter | |
| XM_006720247.4:c.1072C>T | XP_006720310.1:p.Arg358Ter | |
| XM_017021624.2:c.1069C>T | XP_016877113.1:p.Arg357Ter | |
| XM_017021625.1:c.1078C>T | XP_016877114.1:p.Arg360Ter | |
| XR_001750539.2:n.1019C>T | ||
| NM_003384.3:c.1072C>T MANE Select | NP_003375.1:p.Arg358Ter |