Linked Data
ClinVar Variation Id:
313080
ClinVar RCV Id:
RCV000314479
dbSNP Id:
rs41528946
ExAC:
14:35180166 T / C
gnomAD v2:
14-35180166-T-C
gnomAD v3:
14-34710960-T-C
gnomAD v4:
14-34710960-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.34710960T>C , CM000676.2:g.34710960T>C | GRCh38 |
| NC_000014.8:g.35180166T>C , CM000676.1:g.35180166T>C | GRCh37 |
| NC_000014.7:g.34249917T>C | NCBI36 |
| NG_012740.1:g.8864A>G , LRG_213:g.8864A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298159.11:c.*1905A>G MANE Select | ENSP00000298159.6:n.*1905A>G | |
| ENST00000341223.8:c.*1905A>G | ENSP00000340635.3:n.*1905A>G | |
| ENST00000672517.1:c.*1905A>G | ENSP00000500532.1:n.*1905A>G | |
| ENST00000298159.10:c.*1905A>G | ENSP00000298159.6:n.*1905A>G | |
| ENST00000341223.7:c.*1905A>G | ENSP00000340635.3:n.*1905A>G | |
| NM_001243645.1:c.*1905A>G | NP_001230574.1:n.*1905A>G | |
| NM_021914.7:c.*1905A>G | NP_068733.1:n.*1905A>G | |
| NM_138638.4:c.*1905A>G , LRG_213t1:c.*1905A>G | NP_619579.1:n.*1905A>G | |
| NR_028130.1:n.2546A>G | ||
| NR_028131.1:n.2435A>G | ||
| XM_011536363.1:c.*1905A>G | XP_011534665.1:n.*1905A>G | |
| XM_011536363.3:c.*1905A>G | XP_011534665.1:n.*1905A>G | |
| NM_138638.5:c.*1905A>G MANE Select | NP_619579.1:n.*1905A>G | |
| NM_001243645.2:c.*1905A>G | NP_001230574.1:n.*1905A>G | |
| NM_021914.8:c.*1905A>G | NP_068733.1:n.*1905A>G | |
| NR_028130.2:n.2316A>G | ||
| NR_028131.2:n.2205A>G |