Linked Data
ClinVar Variation Id:
392184
dbSNP Id:
rs75386064
ExAC:
10:16970304 T / C
gnomAD v2:
10-16970304-T-C
gnomAD v3:
10-16928305-T-C
gnomAD v4:
10-16928305-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16928305T>C , CM000672.2:g.16928305T>C | GRCh38 |
| NC_000010.10:g.16970304T>C , CM000672.1:g.16970304T>C | GRCh37 |
| NC_000010.9:g.17010310T>C | NCBI36 |
| NG_008967.1:g.206513A>G , LRG_540:g.206513A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.6125-2A>G MANE Select | ENSP00000367064.4:n.6125-2A>G | |
| ENST00000377833.8:c.6125-2A>G | ENSP00000367064.4:n.6125-2A>G | |
| NM_001081.3:c.6125-2A>G , LRG_540t1:c.6125-2A>G | NP_001072.2:n.6125-2A>G | |
| XM_011519708.1:c.6125-2A>G | XP_011518010.1:n.6125-2A>G | |
| XM_011519709.1:c.2111-2A>G | XP_011518011.1:n.2111-2A>G | |
| XM_011519710.1:c.2087-2A>G | XP_011518012.1:n.2087-2A>G | |
| XM_011519711.1:c.1967-2A>G | XP_011518013.1:n.1967-2A>G | |
| XM_011519708.2:c.6125-2A>G | XP_011518010.1:n.6125-2A>G | |
| XM_011519709.2:c.2111-2A>G | XP_011518011.1:n.2111-2A>G | |
| XM_011519710.2:c.2087-2A>G | XP_011518012.1:n.2087-2A>G | |
| XM_011519711.3:c.1967-2A>G | XP_011518013.1:n.1967-2A>G | |
| NM_001081.4:c.6125-2A>G MANE Select | NP_001072.2:n.6125-2A>G |