Linked Data
ClinVar Variation Id:
314585
ClinVar RCV Id:
RCV000316158
dbSNP Id:
rs10132095
gnomAD v2:
14-77973982-T-C
gnomAD v3:
14-77507639-T-C
gnomAD v4:
14-77507639-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77507639T>C , CM000676.2:g.77507639T>C | GRCh38 |
| NC_000014.8:g.77973982T>C , CM000676.1:g.77973982T>C | GRCh37 |
| NC_000014.7:g.77043735T>C | NCBI36 |
| NG_028282.1:g.114129A>G , LRG_371:g.114129A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.5366A>G | ||
| ENST00000687688.1:n.6097A>G | ||
| ENST00000692906.1:n.6066A>G | ||
| ENST00000216484.7:c.*4645A>G MANE Select | ENSP00000216484.2:n.*4645A>G | |
| ENST00000216484.6:c.*4645A>G | ENSP00000216484.2:n.*4645A>G | |
| NM_004863.3:c.*4645A>G , LRG_371t1:c.*4645A>G | NP_004854.1:n.*4645A>G | |
| NM_004863.4:c.*4645A>G MANE Select | NP_004854.1:n.*4645A>G |