Linked Data
ClinVar Variation Id:
298434
dbSNP Id:
rs2281636
gnomAD v2:
10-101492403-T-G
gnomAD v3:
10-99732646-T-G
gnomAD v4:
10-99732646-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99732646T>G , CM000672.2:g.99732646T>G | GRCh38 |
| NC_000010.10:g.101492403T>G , CM000672.1:g.101492403T>G | GRCh37 |
| NC_000010.9:g.101482393T>G | NCBI36 |
| NG_008986.1:g.5021A>C , LRG_406:g.5021A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370476.10:c.61+237T>G (CUTC) MANE Select | ENSP00000359507.5:n.61+237T>G | |
| ENST00000370472.4:c.-129+86T>G (CUTC) | ENSP00000359503.4:n.-129+86T>G | |
| ENST00000370476.9:c.61+237T>G (CUTC) | ENSP00000359507.5:n.61+237T>G | |
| ENST00000471520.5:c.61+237T>G (CUTC) | ENSP00000433900.1:n.61+237T>G | |
| ENST00000493385.5:n.310-3600T>G (CUTC) | ||
| NM_004376.5:c.-597A>C , LRG_406t2:c.-597A>C (COX15) | NP_004367.2:n.-597A>C | |
| NM_015960.2:c.61+237T>G (CUTC) | NP_057044.2:n.61+237T>G | |
| NM_078470.4:c.-597A>C , LRG_406t1:c.-597A>C (COX15) | NP_510870.1:n.-597A>C | |
| NM_001320974.1:c.-597A>C (COX15) | NP_001307903.1:n.-597A>C | |
| NM_001320975.1:c.-597A>C (COX15) | NP_001307904.1:n.-597A>C | |
| NM_001320976.1:c.-1051A>C (COX15) | NP_001307905.1:n.-1051A>C | |
| NM_004376.6:c.-597A>C (COX15) | NP_004367.2:n.-597A>C | |
| NM_078470.5:c.-597A>C (COX15) | NP_510870.1:n.-597A>C | |
| NM_015960.3:c.61+237T>G (CUTC) MANE Select | NP_057044.2:n.61+237T>G |