Linked Data
ClinVar Variation Id:
335528
ClinVar RCV Id:
RCV000269210
dbSNP Id:
rs886055897
gnomAD v3:
2-27323044-C-T
gnomAD v4:
2-27323044-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27323044C>T , CM000664.2:g.27323044C>T | GRCh38 |
| NC_000002.11:g.27545911C>T , CM000664.1:g.27545911C>T | GRCh37 |
| NC_000002.10:g.27399415C>T | NCBI36 |
| NG_008075.1:g.4521G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380044.6:c.-6+8G>A MANE Select | ENSP00000369383.1:n.-6+8G>A | |
| ENST00000357186.10:c.18+1389G>A | ENSP00000349713.6:n.18+1389G>A | |
| ENST00000380044.5:c.-6+8G>A | ENSP00000369383.1:n.-6+8G>A | |
| ENST00000399052.8:c.-6+8G>A | ENSP00000382006.4:n.-6+8G>A | |
| ENST00000402310.5:c.-6+8G>A | ENSP00000383955.1:n.-6+8G>A | |
| ENST00000402722.5:c.-6+8G>A | ENSP00000386000.1:n.-6+8G>A | |
| ENST00000403262.6:c.-6+8G>A | ENSP00000385671.1:n.-6+8G>A | |
| ENST00000405076.5:c.-6+8G>A | ENSP00000385175.1:n.-6+8G>A | |
| ENST00000405983.5:c.-6+8G>A | ENSP00000384586.1:n.-6+8G>A | |
| ENST00000415514.5:c.-6+8G>A | ENSP00000388043.1:n.-6+8G>A | |
| ENST00000426513.6:c.-6+8G>A | ENSP00000403824.2:n.-6+8G>A | |
| ENST00000428910.5:c.-208+8G>A | ENSP00000405235.1:n.-208+8G>A | |
| ENST00000486898.1:n.46+8G>A | ||
| ENST00000494436.1:n.26+8G>A | ||
| ENST00000617583.4:n.21+8G>A | ||
| ENST00000621183.4:n.51+8G>A | ||
| ENST00000621470.4:n.46+8G>A | ||
| ENST00000622003.4:n.11+8G>A | ||
| NM_002437.4:c.-6+8G>A | NP_002428.1:n.-6+8G>A | |
| XM_005264326.2:c.-60G>A | XP_005264383.1:n.-60G>A | |
| XM_005264327.2:c.-130+8G>A | XP_005264384.1:n.-130+8G>A | |
| XM_006712021.2:c.-211+8G>A | XP_006712084.1:n.-211+8G>A | |
| XM_005264326.4:c.-60G>A | XP_005264383.1:n.-60G>A | |
| XM_006712021.3:c.-211+8G>A | XP_006712084.1:n.-211+8G>A | |
| XM_017004150.1:c.-3258+8G>A | XP_016859639.1:n.-3258+8G>A | |
| XM_024452913.1:c.-265G>A | XP_024308681.1:n.-265G>A | |
| NM_002437.5:c.-6+8G>A MANE Select | NP_002428.1:n.-6+8G>A |