Linked Data
ClinVar Variation Id:
162554
dbSNP Id:
rs142719863
ExAC:
2:238287471 C / T
gnomAD v2:
2-238287471-C-T
gnomAD v3:
2-237378828-C-T
gnomAD v4:
2-237378828-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237378828C>T , CM000664.2:g.237378828C>T | GRCh38 |
| NC_000002.11:g.238287471C>T , CM000664.1:g.238287471C>T | GRCh37 |
| NC_000002.10:g.237952210C>T | NCBI36 |
| NG_008676.1:g.40380G>A , LRG_473:g.40380G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.1687G>A | ENSP00000315873.4:p.Ala563Thr | |
| ENST00000295550.9:c.2305G>A MANE Select | ENSP00000295550.4:p.Ala769Thr | |
| ENST00000295550.8:c.2305G>A | ENSP00000295550.4:p.Ala769Thr | |
| ENST00000347401.7:c.677-1484G>A | ENSP00000315609.4:n.677-1484G>A | |
| ENST00000353578.8:c.1687G>A | ENSP00000315873.4:p.Ala563Thr | |
| ENST00000392003.6:c.1084G>A | ENSP00000375860.2:p.Ala362Thr | |
| ENST00000392004.7:c.1687G>A | ENSP00000375861.3:p.Ala563Thr | |
| ENST00000409809.5:c.1687G>A | ENSP00000386844.1:p.Ala563Thr | |
| ENST00000433762.1:c.1898-1484G>A | ENSP00000389539.1:n.1898-1484G>A | |
| ENST00000472056.5:c.677-1484G>A | ENSP00000418285.1:n.677-1484G>A | |
| NM_004369.3:c.2305G>A , LRG_473t1:c.2305G>A | NP_004360.2:p.Ala769Thr | |
| NM_057164.4:c.1084G>A | NP_476505.3:p.Ala362Thr | |
| NM_057165.4:c.1687G>A | NP_476506.3:p.Ala563Thr | |
| NM_057166.4:c.677-1484G>A | NP_476507.3:n.677-1484G>A | |
| NM_057167.3:c.1687G>A | NP_476508.2:p.Ala563Thr | |
| XM_005246065.1:c.1898-1484G>A | XP_005246122.1:n.1898-1484G>A | |
| XM_005246066.1:c.1084G>A | XP_005246123.1:p.Ala362Thr | |
| XM_006712253.1:c.2305G>A | XP_006712316.1:p.Ala769Thr | |
| XM_011510574.1:c.2305G>A | XP_011508876.1:p.Ala769Thr | |
| XM_011510575.1:c.92-1484G>A | XP_011508877.1:n.92-1484G>A | |
| XM_017003304.1:c.92-1484G>A | XP_016858793.1:n.92-1484G>A | |
| XM_024452684.1:c.1084G>A | XP_024308452.1:p.Ala362Thr | |
| NM_004369.4:c.2305G>A MANE Select | NP_004360.2:p.Ala769Thr | |
| NM_057164.5:c.1084G>A | NP_476505.3:p.Ala362Thr | |
| NM_057165.5:c.1687G>A | NP_476506.3:p.Ala563Thr | |
| NM_057166.5:c.677-1484G>A | NP_476507.3:n.677-1484G>A | |
| NM_057167.4:c.1687G>A | NP_476508.2:p.Ala563Thr |