Linked Data
ClinVar Variation Id:
203912
dbSNP Id:
rs796052029
gnomAD v2:
11-66620018-C-T
gnomAD v4:
11-66852547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66852547C>T , CM000673.2:g.66852547C>T | GRCh38 |
| NC_000011.9:g.66620018C>T , CM000673.1:g.66620018C>T | GRCh37 |
| NC_000011.8:g.66376594C>T | NCBI36 |
| NG_008319.1:g.110830G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393958.7:c.1717G>A | ENSP00000377530.2:p.Ala573Thr | |
| ENST00000393960.7:c.1717G>A MANE Select | ENSP00000377532.1:p.Ala573Thr | |
| ENST00000525476.2:n.290-2482G>A | ||
| ENST00000528224.2:c.1717G>A | ENSP00000498317.1:p.Ala573Thr | |
| ENST00000529047.6:c.1717G>A | ENSP00000435905.2:p.Ala573Thr | |
| ENST00000651036.1:c.1717G>A | ENSP00000498406.1:p.Ala573Thr | |
| ENST00000651469.1:c.*193G>A | ENSP00000498712.1:n.*193G>A | |
| ENST00000651854.1:c.1717G>A | ENSP00000498994.1:p.Ala573Thr | |
| ENST00000652125.1:c.1717G>A | ENSP00000498302.1:p.Ala573Thr | |
| ENST00000393955.6:c.1717G>A | ENSP00000377527.2:p.Ala573Thr | |
| ENST00000393958.6:c.1717G>A | ENSP00000377530.2:p.Ala573Thr | |
| ENST00000393960.5:c.1717G>A | ENSP00000377532.1:p.Ala573Thr | |
| ENST00000530259.1:n.330G>A | ||
| NM_000920.3:c.1717G>A | NP_000911.2:p.Ala573Thr | |
| NM_001040716.1:c.1717G>A | NP_001035806.1:p.Ala573Thr | |
| NM_022172.2:c.1717G>A | NP_071504.2:p.Ala573Thr | |
| XM_005274031.3:c.1717G>A | XP_005274088.1:p.Ala573Thr | |
| XM_005274032.3:c.1717G>A | XP_005274089.1:p.Ala573Thr | |
| XM_006718577.2:c.1717G>A | XP_006718640.1:p.Ala573Thr | |
| XM_006718578.2:c.1717G>A | XP_006718641.1:p.Ala573Thr | |
| XM_006718579.2:c.196G>A | XP_006718642.1:p.Ala66Thr | |
| XM_011545085.1:c.1717G>A | XP_011543387.1:p.Ala573Thr | |
| XM_011545086.1:c.1717G>A | XP_011543388.1:p.Ala573Thr | |
| XM_011545087.1:c.421G>A | XP_011543389.1:p.Ala141Thr | |
| XM_011545088.1:c.352G>A | XP_011543390.1:p.Ala118Thr | |
| XM_005274031.4:c.1717G>A | XP_005274088.1:p.Ala573Thr | |
| XM_005274032.4:c.1717G>A | XP_005274089.1:p.Ala573Thr | |
| XM_006718578.3:c.1717G>A | XP_006718641.1:p.Ala573Thr | |
| XM_006718579.3:c.196G>A | XP_006718642.1:p.Ala66Thr | |
| XM_011545086.2:c.1717G>A | XP_011543388.1:p.Ala573Thr | |
| XM_011545087.2:c.421G>A | XP_011543389.1:p.Ala141Thr | |
| XM_017017868.1:c.1717G>A | XP_016873357.1:p.Ala573Thr | |
| XM_017017869.1:c.1717G>A | XP_016873358.1:p.Ala573Thr | |
| XM_017017870.1:c.1717G>A | XP_016873359.1:p.Ala573Thr | |
| XM_017017871.1:c.1717G>A | XP_016873360.1:p.Ala573Thr | |
| XM_017017872.2:c.1717G>A | XP_016873361.1:p.Ala573Thr | |
| NM_000920.4:c.1717G>A | NP_000911.2:p.Ala573Thr | |
| NM_001040716.2:c.1717G>A MANE Select | NP_001035806.1:p.Ala573Thr | |
| NM_022172.3:c.1717G>A | NP_071504.2:p.Ala573Thr |