Linked Data
dbSNP Id:
rs4238989
gnomAD v2:
17-74463388-C-G
gnomAD v3:
17-76467306-C-G
gnomAD v4:
17-76467306-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76467306C>G , CM000679.2:g.76467306C>G | GRCh38 |
| NC_000017.10:g.74463388C>G , CM000679.1:g.74463388C>G | GRCh37 |
| NC_000017.9:g.71974983C>G | NCBI36 |
| NG_015976.1:g.18956C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000250615.7:c.60+1074C>G | ENSP00000250615.2:n.60+1074C>G | |
| NM_001166579.1:c.60+1074C>G | NP_001160051.1:n.60+1074C>G | |
| XM_011524415.1:c.-75-1366C>G | XP_011522717.1:n.-75-1366C>G | |
| XM_011524416.1:c.133-1366C>G | XP_011522718.1:n.133-1366C>G | |
| XM_011524417.1:c.133-1366C>G | XP_011522719.1:n.133-1366C>G | |
| XM_011524418.1:c.133-1366C>G | XP_011522720.1:n.133-1366C>G | |
| XM_011524419.1:c.133-1366C>G | XP_011522721.1:n.133-1366C>G | |
| XM_011524420.1:c.133-1366C>G | XP_011522722.1:n.133-1366C>G | |
| XM_011524421.1:c.133-1366C>G | XP_011522723.1:n.133-1366C>G | |
| XM_011524422.1:c.16-1366C>G | XP_011522724.1:n.16-1366C>G | |
| XM_011524423.1:c.-76+995C>G | XP_011522725.1:n.-76+995C>G | |
| XM_017024259.1:c.-1327C>G | XP_016879748.1:n.-1327C>G | |
| NM_001166579.2:c.60+1074C>G | NP_001160051.1:n.60+1074C>G |