Linked Data
ClinVar Variation Id:
96606
dbSNP Id:
rs140373763
ExAC:
6:80881123 A / G
gnomAD v2:
6-80881123-A-G
gnomAD v3:
6-80171406-A-G
gnomAD v4:
6-80171406-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80171406A>G , CM000668.2:g.80171406A>G | GRCh38 |
| NC_000006.11:g.80881123A>G , CM000668.1:g.80881123A>G | GRCh37 |
| NC_000006.10:g.80937842A>G | NCBI36 |
| NG_009775.1:g.69780A>G | |
| NG_009775.2:g.69780A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.742+16A>G MANE Select | ENSP00000318351.5:n.742+16A>G | |
| ENST00000320393.8:c.742+16A>G | ENSP00000318351.5:n.742+16A>G | |
| ENST00000356489.9:c.742+16A>G | ENSP00000348880.5:n.742+16A>G | |
| NM_000056.3:c.742+16A>G | NP_000047.1:n.742+16A>G | |
| NM_183050.2:c.742+16A>G | NP_898871.1:n.742+16A>G | |
| XM_005248756.3:c.742+16A>G | XP_005248813.1:n.742+16A>G | |
| XM_006715542.2:c.532+16A>G | XP_006715605.1:n.532+16A>G | |
| XM_011536023.1:c.742+16A>G | XP_011534325.1:n.742+16A>G | |
| XM_011536024.1:c.742+16A>G | XP_011534326.1:n.742+16A>G | |
| XM_011536025.1:c.742+16A>G | XP_011534327.1:n.742+16A>G | |
| XM_011536026.1:c.532+16A>G | XP_011534328.1:n.532+16A>G | |
| NM_000056.4:c.742+16A>G | NP_000047.1:n.742+16A>G | |
| NM_001318975.1:c.532+16A>G | NP_001305904.1:n.532+16A>G | |
| NM_183050.3:c.742+16A>G | NP_898871.1:n.742+16A>G | |
| NR_134945.1:n.920+16A>G | ||
| XM_005248756.5:c.742+16A>G | XP_005248813.1:n.742+16A>G | |
| XM_011536023.3:c.742+16A>G | XP_011534325.1:n.742+16A>G | |
| XM_011536024.3:c.742+16A>G | XP_011534326.1:n.742+16A>G | |
| XM_011536025.3:c.742+16A>G | XP_011534327.1:n.742+16A>G | |
| XR_001743546.2:n.772+16A>G | ||
| XR_001743547.2:n.772+16A>G | ||
| XR_001743548.2:n.772+16A>G | ||
| XR_001743549.2:n.772+16A>G | ||
| XR_002956292.1:n.772+16A>G | ||
| NM_183050.4:c.742+16A>G MANE Select | NP_898871.1:n.742+16A>G | |
| NR_134945.2:n.859+16A>G | ||
| NM_000056.5:c.742+16A>G | NP_000047.1:n.742+16A>G |