Linked Data
ClinVar Variation Id:
1611172
ClinVar RCV Id:
RCV002165945
dbSNP Id:
rs780533166
ExAC:
9:139393545 C / T
gnomAD v2:
9-139393545-C-T
gnomAD v3:
9-136499093-C-T
gnomAD v4:
9-136499093-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136499093C>T , CM000671.2:g.136499093C>T | GRCh38 |
| NC_000009.11:g.139393545C>T , CM000671.1:g.139393545C>T | GRCh37 |
| NC_000009.10:g.138513366C>T | NCBI36 |
| NG_007458.1:g.51694G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6082+19G>A MANE Select | ENSP00000498587.1:n.6082+19G>A | |
| ENST00000679595.1:c.*1122+19G>A | ENSP00000506241.1:n.*1122+19G>A | |
| ENST00000679969.1:n.2582G>A | ||
| ENST00000680003.1:n.2414+19G>A | ||
| ENST00000680133.1:c.5968+19G>A | ENSP00000505319.1:n.5968+19G>A | |
| ENST00000680218.1:c.5962+19G>A | ENSP00000505339.1:n.5962+19G>A | |
| ENST00000680668.1:c.5968+19G>A | ENSP00000506336.1:n.5968+19G>A | |
| ENST00000680778.1:c.3679+19G>A | ENSP00000506033.1:n.3679+19G>A | |
| ENST00000680924.1:c.*3482+19G>A | ENSP00000506031.1:n.*3482+19G>A | |
| ENST00000681135.1:c.*3691+19G>A | ENSP00000506636.1:n.*3691+19G>A | |
| ENST00000681298.1:n.4187+19G>A | ||
| ENST00000681454.1:c.*5318+19G>A | ENSP00000505763.1:n.*5318+19G>A | |
| ENST00000277541.6:c.6082+19G>A | ENSP00000277541.6:n.6082+19G>A | |
| NM_017617.3:c.6082+19G>A | NP_060087.3:n.6082+19G>A | |
| XM_011518717.1:c.5383+19G>A | XP_011517019.1:n.5383+19G>A | |
| NM_017617.5:c.6082+19G>A MANE Select | NP_060087.3:n.6082+19G>A | |
| XM_011518717.2:c.5359+19G>A | XP_011517019.2:n.5359+19G>A |