Linked Data
ClinVar Variation Id:
1092091
ClinVar RCV Id:
RCV001411831
dbSNP Id:
rs759566930
ExAC:
16:1561167 A / C
gnomAD v2:
16-1561167-A-C
gnomAD v3:
16-1511166-A-C
gnomAD v4:
16-1511166-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1511166A>C , CM000678.2:g.1511166A>C | GRCh38 |
| NC_000016.9:g.1561167A>C , CM000678.1:g.1561167A>C | GRCh37 |
| NC_000016.8:g.1501168A>C | NCBI36 |
| NG_032783.1:g.105943T>G | |
| NG_050910.1:g.22823A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4183-16T>G MANE Select | ENSP00000406012.2:n.4183-16T>G | |
| ENST00000361339.9:c.1765-16T>G | ENSP00000354895.5:n.1765-16T>G | |
| ENST00000397417.6:c.*2621-16T>G | ENSP00000380562.2:n.*2621-16T>G | |
| ENST00000426508.6:c.4183-16T>G | ENSP00000406012.2:n.4183-16T>G | |
| ENST00000565298.5:n.4007-16T>G | ||
| NM_014714.3:c.4183-16T>G | NP_055529.2:n.4183-16T>G | |
| XM_006720989.2:c.4183-16T>G | XP_006721052.1:n.4183-16T>G | |
| XM_006720990.2:c.4183-16T>G | XP_006721053.1:n.4183-16T>G | |
| XM_006720991.2:c.4183-16T>G | XP_006721054.1:n.4183-16T>G | |
| XM_006720992.2:c.1816-16T>G | XP_006721055.1:n.1816-16T>G | |
| XM_011522766.1:c.3937-16T>G | XP_011521068.1:n.3937-16T>G | |
| XM_011522767.1:c.3208-16T>G | XP_011521069.1:n.3208-16T>G | |
| XM_006720990.3:c.4183-16T>G | XP_006721053.1:n.4183-16T>G | |
| XM_006720991.3:c.4183-16T>G | XP_006721054.1:n.4183-16T>G | |
| XM_006720992.3:c.1816-16T>G | XP_006721055.1:n.1816-16T>G | |
| XM_011522766.3:c.3937-16T>G | XP_011521068.1:n.3937-16T>G | |
| XM_011522767.2:c.3208-16T>G | XP_011521069.1:n.3208-16T>G | |
| XM_017023910.1:c.4183-16T>G | XP_016879399.1:n.4183-16T>G | |
| XM_017023911.1:c.2368-16T>G | XP_016879400.1:n.2368-16T>G | |
| NM_014714.4:c.4183-16T>G MANE Select | NP_055529.2:n.4183-16T>G |