Linked Data
ClinVar Variation Id:
1259983
ClinVar RCV Id:
RCV001666900
dbSNP Id:
rs12704795
gnomAD v2:
7-95054007-T-G
gnomAD v3:
7-95424695-T-G
gnomAD v4:
7-95424695-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95424695T>G , CM000669.2:g.95424695T>G | GRCh38 |
| NC_000007.13:g.95054007T>G , CM000669.1:g.95054007T>G | GRCh37 |
| NC_000007.12:g.94891943T>G | NCBI36 |
| NG_008725.1:g.15378A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222572.8:c.75-110A>C MANE Select | ENSP00000222572.3:n.75-110A>C | |
| ENST00000222572.7:c.75-110A>C | ENSP00000222572.3:n.75-110A>C | |
| ENST00000433091.6:c.75-110A>C | ENSP00000404622.2:n.75-110A>C | |
| ENST00000446142.5:c.75-110A>C | ENSP00000405211.1:n.75-110A>C | |
| ENST00000455123.5:c.75-110A>C | ENSP00000414515.1:n.75-110A>C | |
| ENST00000460873.5:n.75-110A>C | ||
| ENST00000469716.1:n.152-110A>C | ||
| ENST00000469926.5:c.-183-8398A>C | ENSP00000488550.1:n.-183-8398A>C | |
| ENST00000471883.1:n.154-110A>C | ||
| ENST00000478801.5:c.-309-110A>C | ENSP00000487703.1:n.-309-110A>C | |
| ENST00000490778.5:c.-238-110A>C | ENSP00000488826.1:n.-238-110A>C | |
| ENST00000491069.5:c.75-110A>C | ENSP00000488462.1:n.75-110A>C | |
| ENST00000493290.5:c.-184-110A>C | ENSP00000488822.1:n.-184-110A>C | |
| ENST00000493469.5:n.87-110A>C | ||
| ENST00000632034.1:c.75-110A>C | ENSP00000487898.1:n.75-110A>C | |
| ENST00000633192.1:c.138-110A>C | ENSP00000488378.1:n.138-110A>C | |
| ENST00000633531.1:c.75-110A>C | ENSP00000488838.1:n.75-110A>C | |
| NM_000305.2:c.75-110A>C | NP_000296.2:n.75-110A>C | |
| NM_001018161.1:c.75-110A>C | NP_001018171.1:n.75-110A>C | |
| XM_005250453.1:c.-104-110A>C | XP_005250510.1:n.-104-110A>C | |
| XM_005250454.1:c.-180-110A>C | XP_005250511.1:n.-180-110A>C | |
| XM_011516333.1:c.-254-110A>C | XP_011514635.1:n.-254-110A>C | |
| XM_017012357.2:c.-180-110A>C | XP_016867846.1:n.-180-110A>C | |
| XM_017012358.2:c.-254-110A>C | XP_016867847.1:n.-254-110A>C | |
| NM_000305.3:c.75-110A>C MANE Select | NP_000296.2:n.75-110A>C | |
| NM_001018161.2:c.75-110A>C | NP_001018171.1:n.75-110A>C |