Linked Data
ClinVar Variation Id:
314867
dbSNP Id:
rs536827304
gnomAD v2:
14-92336205-G-A
gnomAD v3:
14-91869861-G-A
gnomAD v4:
14-91869861-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91869861G>A , CM000676.2:g.91869861G>A | GRCh38 |
| NC_000014.8:g.92336205G>A , CM000676.1:g.92336205G>A | GRCh37 |
| NC_000014.7:g.91405958G>A | NCBI36 |
| NG_008254.1:g.82842C>T , LRG_364:g.82842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*1676C>T | ENSP00000451002.1:n.*1676C>T | |
| ENST00000557570.2:c.*363C>T | ENSP00000450787.2:n.*363C>T | |
| ENST00000706675.1:n.1525C>T | ||
| ENST00000706676.1:c.*363C>T | ENSP00000516492.1:n.*363C>T | |
| ENST00000706677.1:c.*494C>T | ENSP00000516493.1:n.*494C>T | |
| ENST00000706678.1:n.1630C>T | ||
| ENST00000706679.1:c.*363C>T | ENSP00000516494.1:n.*363C>T | |
| ENST00000706680.1:c.*1553C>T | ENSP00000516495.1:n.*1553C>T | |
| ENST00000706681.1:c.*1449C>T | ENSP00000516496.1:n.*1449C>T | |
| ENST00000342058.9:c.*363C>T MANE Select | ENSP00000345008.4:n.*363C>T | |
| ENST00000267620.14:c.*363C>T | ENSP00000267620.10:n.*363C>T | |
| ENST00000556961.1:n.1845C>T | ||
| NM_006329.3:c.*363C>T , LRG_364t1:c.*363C>T | NP_006320.2:n.*363C>T | |
| XM_005267267.3:c.*363C>T | XP_005267324.1:n.*363C>T | |
| XM_011536356.1:c.*494C>T | XP_011534658.1:n.*494C>T | |
| XM_011536357.1:c.*494C>T | XP_011534659.1:n.*494C>T | |
| XM_011536358.1:c.*494C>T | XP_011534660.1:n.*494C>T | |
| XM_011536357.2:c.*494C>T | XP_011534659.1:n.*494C>T | |
| XM_011536358.2:c.*494C>T | XP_011534660.1:n.*494C>T | |
| XM_017020929.2:c.*363C>T | XP_016876418.1:n.*363C>T | |
| NM_001384158.1:c.*363C>T | NP_001371087.1:n.*363C>T | |
| NM_001384159.1:c.*363C>T | NP_001371088.1:n.*363C>T | |
| NM_001384160.1:c.*494C>T | NP_001371089.1:n.*494C>T | |
| NM_001384161.1:c.*494C>T | NP_001371090.1:n.*494C>T | |
| NM_001384162.1:c.*363C>T | NP_001371091.1:n.*363C>T | |
| NM_006329.4:c.*363C>T MANE Select | NP_006320.2:n.*363C>T |