Linked Data
ClinVar Variation Id:
313081
ClinVar RCV Id:
RCV000362144
dbSNP Id:
rs775859581
ExAC:
14:35180186 G / A
gnomAD v2:
14-35180186-G-A
gnomAD v3:
14-34710980-G-A
gnomAD v4:
14-34710980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.34710980G>A , CM000676.2:g.34710980G>A | GRCh38 |
| NC_000014.8:g.35180186G>A , CM000676.1:g.35180186G>A | GRCh37 |
| NC_000014.7:g.34249937G>A | NCBI36 |
| NG_012740.1:g.8844C>T , LRG_213:g.8844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298159.11:c.*1885C>T MANE Select | ENSP00000298159.6:n.*1885C>T | |
| ENST00000341223.8:c.*1885C>T | ENSP00000340635.3:n.*1885C>T | |
| ENST00000672517.1:c.*1885C>T | ENSP00000500532.1:n.*1885C>T | |
| ENST00000298159.10:c.*1885C>T | ENSP00000298159.6:n.*1885C>T | |
| ENST00000341223.7:c.*1885C>T | ENSP00000340635.3:n.*1885C>T | |
| NM_001243645.1:c.*1885C>T | NP_001230574.1:n.*1885C>T | |
| NM_021914.7:c.*1885C>T | NP_068733.1:n.*1885C>T | |
| NM_138638.4:c.*1885C>T , LRG_213t1:c.*1885C>T | NP_619579.1:n.*1885C>T | |
| NR_028130.1:n.2526C>T | ||
| NR_028131.1:n.2415C>T | ||
| XM_011536363.1:c.*1885C>T | XP_011534665.1:n.*1885C>T | |
| XM_011536363.3:c.*1885C>T | XP_011534665.1:n.*1885C>T | |
| NM_138638.5:c.*1885C>T MANE Select | NP_619579.1:n.*1885C>T | |
| NM_001243645.2:c.*1885C>T | NP_001230574.1:n.*1885C>T | |
| NM_021914.8:c.*1885C>T | NP_068733.1:n.*1885C>T | |
| NR_028130.2:n.2296C>T | ||
| NR_028131.2:n.2185C>T |