Linked Data
ClinVar Variation Id:
2827347
ClinVar RCV Id:
RCV003683628
dbSNP Id:
rs771162266
ExAC:
2:26741994 G / A
gnomAD v2:
2-26741994-G-A
gnomAD v4:
2-26519126-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26519126G>A , CM000664.2:g.26519126G>A | GRCh38 |
| NC_000002.11:g.26741994G>A , CM000664.1:g.26741994G>A | GRCh37 |
| NC_000002.10:g.26595498G>A | NCBI36 |
| NG_009937.1:g.44573C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.228-17C>T MANE Select | ENSP00000272371.2:n.228-17C>T | |
| ENST00000272371.6:c.228-17C>T | ENSP00000272371.2:n.228-17C>T | |
| ENST00000403946.7:c.228-17C>T | ENSP00000385255.3:n.228-17C>T | |
| NM_001287489.1:c.228-17C>T | NP_001274418.1:n.228-17C>T | |
| NM_194248.2:c.228-17C>T | NP_919224.1:n.228-17C>T | |
| XM_005264644.2:c.228-17C>T | XP_005264701.1:n.228-17C>T | |
| XM_011533185.1:c.228-17C>T | XP_011531487.1:n.228-17C>T | |
| XM_017005338.1:c.228-17C>T | XP_016860827.1:n.228-17C>T | |
| NM_001287489.2:c.228-17C>T | NP_001274418.1:n.228-17C>T | |
| NM_194248.3:c.228-17C>T MANE Select | NP_919224.1:n.228-17C>T |