Linked Data
ClinVar Variation Id:
1710532
ClinVar RCV Id:
RCV002291819
dbSNP Id:
rs8057341
gnomAD v2:
16-50737980-A-G
gnomAD v3:
16-50704069-A-G
gnomAD v4:
16-50704069-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50704069A>G , CM000678.2:g.50704069A>G | GRCh38 |
| NC_000016.9:g.50737980A>G , CM000678.1:g.50737980A>G | GRCh37 |
| NC_000016.8:g.49295481A>G | NCBI36 |
| NG_007508.1:g.11931A>G , LRG_177:g.11931A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641284.2:c.460-3786A>G | ENSP00000493088.1:n.460-3786A>G | |
| ENST00000646677.2:c.460-3786A>G | ENSP00000496533.1:n.460-3786A>G | |
| ENST00000641284.1:c.460-3786A>G | ENSP00000493088.1:n.460-3786A>G | |
| ENST00000646677.1:c.460-3786A>G | ENSP00000496533.1:n.460-3786A>G | |
| ENST00000647318.2:c.460-3786A>G MANE Select | ENSP00000495993.1:n.460-3786A>G | |
| ENST00000300589.6:c.541-3786A>G | ENSP00000300589.2:n.541-3786A>G | |
| ENST00000526417.6:n.528-3786A>G | ||
| ENST00000527070.5:c.*1156-3786A>G | ENSP00000435149.1:n.*1156-3786A>G | |
| ENST00000532206.1:n.644+4115A>G | ||
| NM_001293557.1:c.460-3786A>G | NP_001280486.1:n.460-3786A>G | |
| NM_022162.2:c.541-3786A>G | NP_071445.1:n.541-3786A>G | |
| XM_005256084.2:c.460-3786A>G | XP_005256141.1:n.460-3786A>G | |
| XM_006721242.2:c.460-3786A>G | XP_006721305.1:n.460-3786A>G | |
| XM_006721243.2:c.460-3786A>G | XP_006721306.1:n.460-3786A>G | |
| XM_011523257.1:c.-37-3786A>G | XP_011521559.1:n.-37-3786A>G | |
| XM_011523258.1:c.-37-3786A>G | XP_011521560.1:n.-37-3786A>G | |
| XM_011523259.1:c.-21+4115A>G | XP_011521561.1:n.-21+4115A>G | |
| XM_011523260.1:c.460-3786A>G | XP_011521562.1:n.460-3786A>G | |
| XM_011523261.1:c.460-3786A>G | XP_011521563.1:n.460-3786A>G | |
| XR_429725.2:n.550-3786A>G | ||
| XR_429726.2:n.550-3786A>G | ||
| XR_933387.1:n.550-3786A>G | ||
| XM_005256084.4:c.460-3786A>G | XP_005256141.1:n.460-3786A>G | |
| XM_006721242.4:c.460-3786A>G | XP_006721305.1:n.460-3786A>G | |
| XM_006721243.4:c.460-3786A>G | XP_006721306.1:n.460-3786A>G | |
| XM_011523259.2:c.-21+4115A>G | XP_011521561.1:n.-21+4115A>G | |
| XM_011523260.3:c.460-3786A>G | XP_011521562.1:n.460-3786A>G | |
| XM_011523261.2:c.460-3786A>G | XP_011521563.1:n.460-3786A>G | |
| XM_017023536.1:c.-126-3786A>G | XP_016879025.1:n.-126-3786A>G | |
| XM_017023537.1:c.-20-6489A>G | XP_016879026.1:n.-20-6489A>G | |
| XM_017023538.1:c.-126-3786A>G | XP_016879027.1:n.-126-3786A>G | |
| XR_429725.3:n.503-3786A>G | ||
| XR_429726.3:n.503-3786A>G | ||
| XR_933387.2:n.503-3786A>G | ||
| NM_001293557.2:c.460-3786A>G | NP_001280486.1:n.460-3786A>G | |
| NM_001370466.1:c.460-3786A>G MANE Select | NP_001357395.1:n.460-3786A>G | |
| NM_022162.3:c.541-3786A>G | NP_071445.1:n.541-3786A>G | |
| NR_163434.1:n.525-3786A>G |