Linked Data
ClinVar Variation Id:
523180
dbSNP Id:
rs764770536
ExAC:
16:1574552 C / A
gnomAD v2:
16-1574552-C-A
gnomAD v4:
16-1524551-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1524551C>A , CM000678.2:g.1524551C>A | GRCh38 |
| NC_000016.9:g.1574552C>A , CM000678.1:g.1574552C>A | GRCh37 |
| NC_000016.8:g.1514553C>A | NCBI36 |
| NG_032783.1:g.92558G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.3141+1G>T MANE Select | ENSP00000406012.2:n.3141+1G>T | |
| ENST00000361339.9:c.723+1G>T | ENSP00000354895.5:n.723+1G>T | |
| ENST00000397417.6:c.*1579+1G>T | ENSP00000380562.2:n.*1579+1G>T | |
| ENST00000426508.6:c.3141+1G>T | ENSP00000406012.2:n.3141+1G>T | |
| ENST00000565298.5:n.2371G>T | ||
| NM_014714.3:c.3141+1G>T | NP_055529.2:n.3141+1G>T | |
| XM_006720989.2:c.3141+1G>T | XP_006721052.1:n.3141+1G>T | |
| XM_006720990.2:c.3141+1G>T | XP_006721053.1:n.3141+1G>T | |
| XM_006720991.2:c.3141+1G>T | XP_006721054.1:n.3141+1G>T | |
| XM_006720992.2:c.774+1G>T | XP_006721055.1:n.774+1G>T | |
| XM_011522766.1:c.2895+1G>T | XP_011521068.1:n.2895+1G>T | |
| XM_011522767.1:c.2166+1G>T | XP_011521069.1:n.2166+1G>T | |
| XM_006720990.3:c.3141+1G>T | XP_006721053.1:n.3141+1G>T | |
| XM_006720991.3:c.3141+1G>T | XP_006721054.1:n.3141+1G>T | |
| XM_006720992.3:c.774+1G>T | XP_006721055.1:n.774+1G>T | |
| XM_011522766.3:c.2895+1G>T | XP_011521068.1:n.2895+1G>T | |
| XM_011522767.2:c.2166+1G>T | XP_011521069.1:n.2166+1G>T | |
| XM_017023910.1:c.3141+1G>T | XP_016879399.1:n.3141+1G>T | |
| XM_017023911.1:c.1326+1G>T | XP_016879400.1:n.1326+1G>T | |
| NM_014714.4:c.3141+1G>T MANE Select | NP_055529.2:n.3141+1G>T |