Linked Data
ClinVar Variation Id:
2437857
ClinVar RCV Id:
RCV003137023
dbSNP Id:
rs749303140
gnomAD v3:
1-155294754-T-A
gnomAD v4:
1-155294754-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155294754T>A , CM000663.2:g.155294754T>A | GRCh38 |
| NC_000001.10:g.155264545T>A , CM000663.1:g.155264545T>A | GRCh37 |
| NC_000001.9:g.153531169T>A | NCBI36 |
| NG_011677.1:g.11681A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.695-2A>T MANE Select | ENSP00000339933.4:n.695-2A>T | |
| ENST00000342741.4:c.695-2A>T | ENSP00000339933.4:n.695-2A>T | |
| ENST00000392414.7:c.602-2A>T | ENSP00000376214.3:n.602-2A>T | |
| NM_000298.5:c.695-2A>T | NP_000289.1:n.695-2A>T | |
| NM_181871.3:c.602-2A>T | NP_870986.1:n.602-2A>T | |
| XM_005245266.3:c.854-2A>T | XP_005245323.1:n.854-2A>T | |
| XM_006711386.2:c.503-2A>T | XP_006711449.1:n.503-2A>T | |
| XM_011509639.1:c.854-2A>T | XP_011507941.1:n.854-2A>T | |
| XM_011509640.1:c.503-2A>T | XP_011507942.1:n.503-2A>T | |
| NM_000298.6:c.695-2A>T MANE Select | NP_000289.1:n.695-2A>T | |
| XM_006711386.4:c.503-2A>T | XP_006711449.1:n.503-2A>T | |
| XM_011509640.3:c.503-2A>T | XP_011507942.1:n.503-2A>T | |
| XM_017001493.1:c.695-2A>T | XP_016856982.1:n.695-2A>T | |
| NM_181871.4:c.602-2A>T | NP_870986.1:n.602-2A>T |