Linked Data
ClinVar Variation Id:
212565
dbSNP Id:
rs770269674
ExAC:
9:2635452 G / A
gnomAD v2:
9-2635452-G-A
gnomAD v4:
9-2635452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2635452G>A , CM000671.2:g.2635452G>A | GRCh38 |
| NC_000009.11:g.2635452G>A , CM000671.1:g.2635452G>A | GRCh37 |
| NC_000009.10:g.2625452G>A | NCBI36 |
| NG_012741.1:g.18660G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382096.6:c.83-1G>A | ENSP00000371528.2:n.83-1G>A | |
| ENST00000382100.8:c.83-1G>A MANE Select | ENSP00000371532.2:n.83-1G>A | |
| ENST00000679851.1:n.68-1G>A | ||
| ENST00000680021.1:n.283-1G>A | ||
| ENST00000680243.1:c.83-1G>A | ENSP00000505911.1:n.83-1G>A | |
| ENST00000680746.1:c.83-1G>A | ENSP00000505030.1:n.83-1G>A | |
| ENST00000680891.1:c.181-1G>A | ENSP00000505167.1:n.181-1G>A | |
| ENST00000681306.1:c.83-1G>A | ENSP00000506072.1:n.83-1G>A | |
| ENST00000681618.1:c.83-1G>A | ENSP00000505773.1:n.83-1G>A | |
| ENST00000681644.1:c.181-1G>A | ENSP00000505180.1:n.181-1G>A | |
| ENST00000681770.1:n.71-1G>A | ||
| ENST00000681806.1:c.83-1G>A | ENSP00000505282.1:n.83-1G>A | |
| ENST00000382096.5:c.83-1G>A | ENSP00000371528.1:n.83-1G>A | |
| ENST00000382099.2:c.83-1G>A | ENSP00000371531.2:n.83-1G>A | |
| ENST00000382100.7:c.83-1G>A | ENSP00000371532.2:n.83-1G>A | |
| NM_001018056.1:c.83-1G>A | NP_001018066.1:n.83-1G>A | |
| NM_003383.3:c.83-1G>A | NP_003374.3:n.83-1G>A | |
| XM_011518029.1:c.83-1G>A | XP_011516331.1:n.83-1G>A | |
| NM_001018056.2:c.83-1G>A | NP_001018066.1:n.83-1G>A | |
| NM_001322225.1:c.83-1G>A | NP_001309154.1:n.83-1G>A | |
| NM_001322226.1:c.83-1G>A | NP_001309155.1:n.83-1G>A | |
| NM_003383.4:c.83-1G>A | NP_003374.3:n.83-1G>A | |
| XR_001746373.2:n.487-1G>A | ||
| XR_002956805.1:n.487-1G>A | ||
| NM_003383.5:c.83-1G>A MANE Select | NP_003374.3:n.83-1G>A | |
| NM_001018056.3:c.83-1G>A | NP_001018066.1:n.83-1G>A | |
| NM_001322225.2:c.83-1G>A | NP_001309154.1:n.83-1G>A | |
| NM_001322226.2:c.83-1G>A | NP_001309155.1:n.83-1G>A |