Linked Data
ClinVar Variation Id:
298428
ClinVar RCV Id:
RCV000359052
dbSNP Id:
rs886046614
gnomAD v2:
10-101492113-G-C
gnomAD v3:
10-99732356-G-C
gnomAD v4:
10-99732356-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99732356G>C , CM000672.2:g.99732356G>C | GRCh38 |
| NC_000010.10:g.101492113G>C , CM000672.1:g.101492113G>C | GRCh37 |
| NC_000010.9:g.101482103G>C | NCBI36 |
| NG_008986.1:g.5311C>G , LRG_406:g.5311C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370476.10:c.8G>C (CUTC) MANE Select | ENSP00000359507.5:p.Arg3Thr | |
| ENST00000370476.9:c.8G>C (CUTC) | ENSP00000359507.5:p.Arg3Thr | |
| ENST00000471520.5:c.8G>C (CUTC) | ENSP00000433900.1:p.Arg3Thr | |
| ENST00000493385.5:n.310-3890G>C (CUTC) | ||
| NM_004376.5:c.-307C>G , LRG_406t2:c.-307C>G (COX15) | NP_004367.2:n.-307C>G | |
| NM_015960.2:c.8G>C (CUTC) | NP_057044.2:p.Arg3Thr | |
| NM_078470.4:c.-307C>G , LRG_406t1:c.-307C>G (COX15) | NP_510870.1:n.-307C>G | |
| NM_001320974.1:c.-307C>G (COX15) | NP_001307903.1:n.-307C>G | |
| NM_001320975.1:c.-307C>G (COX15) | NP_001307904.1:n.-307C>G | |
| NM_001320976.1:c.-761C>G (COX15) | NP_001307905.1:n.-761C>G | |
| NM_004376.6:c.-307C>G (COX15) | NP_004367.2:n.-307C>G | |
| NM_078470.5:c.-307C>G (COX15) | NP_510870.1:n.-307C>G | |
| NM_015960.3:c.8G>C (CUTC) MANE Select | NP_057044.2:p.Arg3Thr |