Linked Data
ClinVar Variation Id:
1331060
ClinVar RCV Id:
RCV001812600
dbSNP Id:
rs777609966
ExAC:
1:155260472 G / T
gnomAD v2:
1-155260472-G-T
gnomAD v3:
1-155290681-G-T
gnomAD v4:
1-155290681-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155290681G>T , CM000663.2:g.155290681G>T | GRCh38 |
| NC_000001.10:g.155260472G>T , CM000663.1:g.155260472G>T | GRCh37 |
| NC_000001.9:g.153527096G>T | NCBI36 |
| NG_011677.1:g.15754C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.1619-3C>A MANE Select | ENSP00000339933.4:n.1619-3C>A | |
| ENST00000342741.4:c.1619-3C>A | ENSP00000339933.4:n.1619-3C>A | |
| ENST00000392414.7:c.1526-3C>A | ENSP00000376214.3:n.1526-3C>A | |
| NM_000298.5:c.1619-3C>A | NP_000289.1:n.1619-3C>A | |
| NM_181871.3:c.1526-3C>A | NP_870986.1:n.1526-3C>A | |
| XM_005245266.3:c.1778-3C>A | XP_005245323.1:n.1778-3C>A | |
| XM_006711386.2:c.1427-3C>A | XP_006711449.1:n.1427-3C>A | |
| XM_011509640.1:c.1427-3C>A | XP_011507942.1:n.1427-3C>A | |
| NM_000298.6:c.1619-3C>A MANE Select | NP_000289.1:n.1619-3C>A | |
| XM_006711386.4:c.1427-3C>A | XP_006711449.1:n.1427-3C>A | |
| XM_011509640.3:c.1427-3C>A | XP_011507942.1:n.1427-3C>A | |
| NM_181871.4:c.1526-3C>A | NP_870986.1:n.1526-3C>A |