Linked Data
ClinVar Variation Id:
65704
dbSNP Id:
rs397515563
gnomAD v2:
9-34517466-G-A
gnomAD v4:
9-34517468-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517468G>A , CM000671.2:g.34517468G>A | GRCh38 |
| NC_000009.11:g.34517466G>A , CM000671.1:g.34517466G>A | GRCh37 |
| NC_000009.10:g.34507466G>A | NCBI36 |
| NG_008127.1:g.63656G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242317.9:c.2001+1G>A MANE Select | ENSP00000242317.4:n.2001+1G>A | |
| ENST00000242317.8:c.2001+1G>A | ENSP00000242317.4:n.2001+1G>A | |
| ENST00000442556.1:c.329+2729G>A | ||
| ENST00000614641.4:c.2013+1G>A | ENSP00000480538.1:n.2013+1G>A | |
| NM_001281428.1:c.2013+1G>A | NP_001268357.1:n.2013+1G>A | |
| NM_012144.3:c.2001+1G>A | NP_036276.1:n.2001+1G>A | |
| XM_006716758.2:c.1470+1G>A | XP_006716821.1:n.1470+1G>A | |
| XM_011517848.1:c.1755+1G>A | XP_011516150.1:n.1755+1G>A | |
| XM_006716758.3:c.1470+1G>A | XP_006716821.1:n.1470+1G>A | |
| XM_011517848.2:c.1755+1G>A | XP_011516150.1:n.1755+1G>A | |
| XM_017014625.2:c.1743+1G>A | XP_016870114.1:n.1743+1G>A | |
| XR_002956774.1:n.2104+1G>A | ||
| NM_012144.4:c.2001+1G>A MANE Select | NP_036276.1:n.2001+1G>A | |
| NM_001281428.2:c.2013+1G>A | NP_001268357.1:n.2013+1G>A |