Linked Data
ClinVar Variation Id:
314874
dbSNP Id:
rs557362799
ExAC:
14:92347627 G / A
gnomAD v2:
14-92347627-G-A
gnomAD v3:
14-91881283-G-A
gnomAD v4:
14-91881283-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91881283G>A , CM000676.2:g.91881283G>A | GRCh38 |
| NC_000014.8:g.92347627G>A , CM000676.1:g.92347627G>A | GRCh37 |
| NC_000014.7:g.91417380G>A | NCBI36 |
| NG_008254.1:g.71420C>T , LRG_364:g.71420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*955+9C>T | ENSP00000451002.1:n.*955+9C>T | |
| ENST00000557570.2:c.821+9C>T | ENSP00000450787.2:n.821+9C>T | |
| ENST00000706675.1:n.804+9C>T | ||
| ENST00000706676.1:c.1163+9C>T | ENSP00000516492.1:n.1163+9C>T | |
| ENST00000706677.1:c.989+9C>T | ENSP00000516493.1:n.989+9C>T | |
| ENST00000706678.1:n.909+9C>T | ||
| ENST00000706679.1:c.821+9C>T | ENSP00000516494.1:n.821+9C>T | |
| ENST00000706680.1:c.*832+9C>T | ENSP00000516495.1:n.*832+9C>T | |
| ENST00000706681.1:c.*728+9C>T | ENSP00000516496.1:n.*728+9C>T | |
| ENST00000342058.9:c.989+9C>T MANE Select | ENSP00000345008.4:n.989+9C>T | |
| ENST00000267620.14:c.1112+9C>T | ENSP00000267620.10:n.1112+9C>T | |
| ENST00000342058.8:c.989+9C>T | ENSP00000345008.4:n.989+9C>T | |
| ENST00000556154.5:c.1004+9C>T | ENSP00000451982.1:n.1004+9C>T | |
| NM_006329.3:c.989+9C>T , LRG_364t1:c.989+9C>T | NP_006320.2:n.989+9C>T | |
| XM_005267267.3:c.1040+9C>T | XP_005267324.1:n.1040+9C>T | |
| XM_011536356.1:c.1040+9C>T | XP_011534658.1:n.1040+9C>T | |
| XM_011536357.1:c.989+9C>T | XP_011534659.1:n.989+9C>T | |
| XM_011536358.1:c.821+9C>T | XP_011534660.1:n.821+9C>T | |
| XM_011536357.2:c.989+9C>T | XP_011534659.1:n.989+9C>T | |
| XM_011536358.2:c.821+9C>T | XP_011534660.1:n.821+9C>T | |
| XM_017020929.2:c.821+9C>T | XP_016876418.1:n.821+9C>T | |
| NM_001384158.1:c.1112+9C>T | NP_001371087.1:n.1112+9C>T | |
| NM_001384159.1:c.1040+9C>T | NP_001371088.1:n.1040+9C>T | |
| NM_001384160.1:c.989+9C>T | NP_001371089.1:n.989+9C>T | |
| NM_001384161.1:c.821+9C>T | NP_001371090.1:n.821+9C>T | |
| NM_001384162.1:c.821+9C>T | NP_001371091.1:n.821+9C>T | |
| NM_006329.4:c.989+9C>T MANE Select | NP_006320.2:n.989+9C>T |