Linked Data
ClinVar Variation Id:
474862
ClinVar RCV Id:
RCV000544624
dbSNP Id:
rs767874638
ExAC:
16:18806007 T / C
gnomAD v2:
16-18806007-T-C
gnomAD v3:
16-18794685-T-C
gnomAD v4:
16-18794685-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.18794685T>C , CM000678.2:g.18794685T>C | GRCh38 |
| NC_000016.9:g.18806007T>C , CM000678.1:g.18806007T>C | GRCh37 |
| NC_000016.8:g.18713508T>C | NCBI36 |
| NG_042860.1:g.11994A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304414.12:c.409-2A>G MANE Select | ENSP00000306788.7:n.409-2A>G | |
| ENST00000304414.11:c.409-2A>G | ENSP00000306788.7:n.409-2A>G | |
| ENST00000546206.6:c.322-2A>G | ENSP00000440048.2:n.322-2A>G | |
| ENST00000562234.2:c.295-2A>G | ENSP00000455341.2:n.295-2A>G | |
| ENST00000562819.5:c.149-1315A>G | ENSP00000457372.1:n.149-1315A>G | |
| ENST00000563861.5:c.291-2A>G | ENSP00000456596.1:n.291-2A>G | |
| ENST00000567078.2:c.409-2A>G | ENSP00000454746.2:n.409-2A>G | |
| NM_001313858.1:c.322-2A>G | NP_001300787.1:n.322-2A>G | |
| NM_015161.1:c.409-2A>G | NP_055976.1:n.409-2A>G | |
| NM_015161.2:c.409-2A>G | NP_055976.1:n.409-2A>G | |
| NM_015161.3:c.409-2A>G MANE Select | NP_055976.1:n.409-2A>G |