Linked Data
ClinVar Variation Id:
164826
dbSNP Id:
rs148690740
ExAC:
16:21734300 G / A
gnomAD v2:
16-21734300-G-A
gnomAD v3:
16-21722979-G-A
gnomAD v4:
16-21722979-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21722979G>A , CM000678.2:g.21722979G>A | GRCh38 |
| NC_000016.9:g.21734300G>A , CM000678.1:g.21734300G>A | GRCh37 |
| NC_000016.8:g.21641801G>A | NCBI36 |
| NG_012973.1:g.49466G>A | |
| NG_012973.2:g.63847G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388958.8:c.1880+1G>A | ENSP00000373610.3:n.1880+1G>A | |
| ENST00000646100.2:c.1880+1G>A MANE Select | ENSP00000496564.2:n.1880+1G>A | |
| ENST00000647277.1:c.*694+1G>A | ENSP00000495594.1:n.*694+1G>A | |
| ENST00000286149.8:c.1922+1G>A | ENSP00000286149.4:n.1922+1G>A | |
| ENST00000388956.8:c.1643+1G>A | ENSP00000373608.4:n.1643+1G>A | |
| ENST00000388957.3:c.908+1G>A | ENSP00000373609.3:n.908+1G>A | |
| ENST00000388958.7:c.1880+1G>A | ENSP00000373610.3:n.1880+1G>A | |
| ENST00000563871.5:n.1295+1G>A | ||
| NM_001161683.1:c.1643+1G>A | NP_001155155.1:n.1643+1G>A | |
| NM_144672.3:c.1880+1G>A | NP_653273.3:n.1880+1G>A | |
| NM_170664.2:c.908+1G>A | NP_733764.1:n.908+1G>A | |
| XM_011545747.1:c.1880+1G>A | XP_011544049.1:n.1880+1G>A | |
| XM_011545748.1:c.749+1G>A | XP_011544050.1:n.749+1G>A | |
| NM_144672.4:c.1880+1G>A MANE Select | NP_653273.3:n.1880+1G>A | |
| XM_011545748.2:c.749+1G>A | XP_011544050.2:n.749+1G>A | |
| XM_017022951.1:c.146+1G>A | XP_016878440.1:n.146+1G>A | |
| XR_002957775.1:n.975+1G>A | ||
| NM_001161683.2:c.1643+1G>A | NP_001155155.1:n.1643+1G>A | |
| NM_170664.3:c.908+1G>A | NP_733764.1:n.908+1G>A |