Linked Data
ClinVar Variation Id:
309831
ClinVar RCV Id:
RCV000392410
dbSNP Id:
rs368327991
ExAC:
12:56396064 G / A
gnomAD v2:
12-56396064-G-A
gnomAD v3:
12-56002280-G-A
gnomAD v4:
12-56002280-G-A
MyVariant Identifiers:
chr12:g.56396064G>A (hg19)
chr12:g.56396064_56396065delinsAC (hg19)
chr12:g.56002280G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56002280G>A , CM000674.2:g.56002280G>A | GRCh38 |
| NC_000012.11:g.56396064G>A , CM000674.1:g.56396064G>A | GRCh37 |
| NC_000012.10:g.54682331G>A | NCBI36 |
| NG_008136.1:g.10022G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266971.8:c.50+9G>A MANE Select | ENSP00000266971.3:n.50+9G>A | |
| ENST00000266971.7:c.50+9G>A | ENSP00000266971.3:n.50+9G>A | |
| ENST00000356124.8:c.50+9G>A | ENSP00000348440.4:n.50+9G>A | |
| ENST00000394109.7:c.50+9G>A | ENSP00000377668.3:n.50+9G>A | |
| ENST00000394115.6:c.50+9G>A | ENSP00000377674.2:n.50+9G>A | |
| ENST00000546712.1:n.279G>A | ||
| ENST00000546833.5:c.50+9G>A | ENSP00000449872.1:n.50+9G>A | |
| ENST00000547586.5:c.50+9G>A | ENSP00000448637.1:n.50+9G>A | |
| ENST00000548274.5:c.50+9G>A | ENSP00000450245.1:n.50+9G>A | |
| ENST00000550065.1:c.50+9G>A | ENSP00000450264.1:n.50+9G>A | |
| ENST00000550340.5:n.113+9G>A | ||
| ENST00000550478.5:n.190+9G>A | ||
| ENST00000551698.5:n.250+9G>A | ||
| ENST00000551841.6:c.50+9G>A | ENSP00000449443.1:n.50+9G>A | |
| ENST00000552258.5:c.50+9G>A | ENSP00000450049.1:n.50+9G>A | |
| ENST00000552363.5:n.82-1338G>A | ||
| ENST00000552813.5:n.191+9G>A | ||
| NM_000456.2:c.50+9G>A | NP_000447.2:n.50+9G>A | |
| NM_001032386.1:c.50+9G>A | NP_001027558.1:n.50+9G>A | |
| NM_001032387.1:c.50+9G>A | NP_001027559.1:n.50+9G>A | |
| XM_005269112.1:c.71+9G>A | XP_005269169.1:n.71+9G>A | |
| XM_017019905.2:c.71+9G>A | XP_016875394.1:n.71+9G>A | |
| XM_017019906.1:c.71+9G>A | XP_016875395.1:n.71+9G>A | |
| XM_017019907.2:c.50+9G>A | XP_016875396.1:n.50+9G>A | |
| XM_017019908.1:c.50+9G>A | XP_016875397.1:n.50+9G>A | |
| XM_024449167.1:c.71+9G>A | XP_024304935.1:n.71+9G>A | |
| NM_001032386.2:c.50+9G>A MANE Select | NP_001027558.1:n.50+9G>A | |
| NM_000456.3:c.50+9G>A | NP_000447.2:n.50+9G>A | |
| NM_001032387.2:c.50+9G>A | NP_001027559.1:n.50+9G>A |