Linked Data
ClinVar Variation Id:
366686
dbSNP Id:
rs886063881
gnomAD v2:
9-34489995-C-T
gnomAD v3:
9-34489997-C-T
gnomAD v4:
9-34489997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34489997C>T , CM000671.2:g.34489997C>T | GRCh38 |
| NC_000009.11:g.34489995C>T , CM000671.1:g.34489995C>T | GRCh37 |
| NC_000009.10:g.34479995C>T | NCBI36 |
| NG_008127.1:g.36185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.389-15C>T MANE Select | ENSP00000242317.4:n.389-15C>T | |
| ENST00000242317.8:c.389-15C>T | ENSP00000242317.4:n.389-15C>T | |
| ENST00000437363.5:c.356-15C>T | ENSP00000395396.1:n.356-15C>T | |
| ENST00000488369.1:n.505-15C>T | ||
| ENST00000614641.4:c.389-3C>T | ENSP00000480538.1:n.389-3C>T | |
| NM_001281428.1:c.389-3C>T | NP_001268357.1:n.389-3C>T | |
| NM_012144.3:c.389-15C>T | NP_036276.1:n.389-15C>T | |
| XM_011517846.1:c.389-3C>T | XP_011516148.1:n.389-3C>T | |
| XM_011517847.1:c.389-3C>T | XP_011516149.1:n.389-3C>T | |
| XM_011517848.1:c.389-3C>T | XP_011516150.1:n.389-3C>T | |
| XM_011517849.1:c.389-3C>T | XP_011516151.1:n.389-3C>T | |
| XM_011517850.1:c.389-3C>T | XP_011516152.1:n.389-3C>T | |
| XR_929232.1:n.643-3C>T | ||
| XR_929233.1:n.643-3C>T | ||
| XR_929235.1:n.643-3C>T | ||
| XM_006716758.3:c.-88-166C>T | XP_006716821.1:n.-88-166C>T | |
| XM_011517846.2:c.389-3C>T | XP_011516148.1:n.389-3C>T | |
| XM_011517847.3:c.389-3C>T | XP_011516149.1:n.389-3C>T | |
| XM_011517848.2:c.389-3C>T | XP_011516150.1:n.389-3C>T | |
| XM_011517849.2:c.389-3C>T | XP_011516151.1:n.389-3C>T | |
| XM_011517850.3:c.389-3C>T | XP_011516152.1:n.389-3C>T | |
| XM_017014625.2:c.389-15C>T | XP_016870114.1:n.389-15C>T | |
| XR_002956774.1:n.590-3C>T | ||
| XR_929232.2:n.590-3C>T | ||
| XR_929233.2:n.590-3C>T | ||
| NM_012144.4:c.389-15C>T MANE Select | NP_036276.1:n.389-15C>T | |
| NM_001281428.2:c.389-3C>T | NP_001268357.1:n.389-3C>T |