Linked Data
ClinVar Variation Id:
1944929
ClinVar RCV Id:
RCV002640020
dbSNP Id:
rs762522472
gnomAD v3:
14-91877560-G-T
gnomAD v4:
14-91877560-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91877560G>T , CM000676.2:g.91877560G>T | GRCh38 |
| NC_000014.8:g.92343904G>T , CM000676.1:g.92343904G>T | GRCh37 |
| NC_000014.7:g.91413657G>T | NCBI36 |
| NG_008254.1:g.75143C>A , LRG_364:g.75143C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*1078C>A | ENSP00000451002.1:n.*1078C>A | |
| ENST00000557570.2:c.944C>A | ENSP00000450787.2:p.Thr315Lys | |
| ENST00000706675.1:n.927C>A | ||
| ENST00000706676.1:c.1286C>A | ENSP00000516492.1:p.Thr429Lys | |
| ENST00000706677.1:c.1112C>A | ENSP00000516493.1:p.Thr371Lys | |
| ENST00000706678.1:n.1032C>A | ||
| ENST00000706679.1:c.944C>A | ENSP00000516494.1:p.Thr315Lys | |
| ENST00000706680.1:c.*955C>A | ENSP00000516495.1:n.*955C>A | |
| ENST00000706681.1:c.*851C>A | ENSP00000516496.1:n.*851C>A | |
| ENST00000342058.9:c.1112C>A MANE Select | ENSP00000345008.4:p.Thr371Lys | |
| ENST00000267620.14:c.1235C>A | ENSP00000267620.10:p.Thr412Lys | |
| ENST00000342058.8:c.1112C>A | ENSP00000345008.4:p.Thr371Lys | |
| ENST00000554121.2:n.238C>A | ||
| ENST00000556154.5:c.1127C>A | ENSP00000451982.1:p.Thr376Lys | |
| NM_006329.3:c.1112C>A , LRG_364t1:c.1112C>A | NP_006320.2:p.Thr371Lys | |
| XM_005267267.3:c.1163C>A | XP_005267324.1:p.Thr388Lys | |
| XM_011536356.1:c.1163C>A | XP_011534658.1:p.Thr388Lys | |
| XM_011536357.1:c.1112C>A | XP_011534659.1:p.Thr371Lys | |
| XM_011536358.1:c.944C>A | XP_011534660.1:p.Thr315Lys | |
| XM_011536357.2:c.1112C>A | XP_011534659.1:p.Thr371Lys | |
| XM_011536358.2:c.944C>A | XP_011534660.1:p.Thr315Lys | |
| XM_017020929.2:c.944C>A | XP_016876418.1:p.Thr315Lys | |
| NM_001384158.1:c.1235C>A | NP_001371087.1:p.Thr412Lys | |
| NM_001384159.1:c.1163C>A | NP_001371088.1:p.Thr388Lys | |
| NM_001384160.1:c.1112C>A | NP_001371089.1:p.Thr371Lys | |
| NM_001384161.1:c.944C>A | NP_001371090.1:p.Thr315Lys | |
| NM_001384162.1:c.944C>A | NP_001371091.1:p.Thr315Lys | |
| NM_006329.4:c.1112C>A MANE Select | NP_006320.2:p.Thr371Lys |