Linked Data
ClinVar Variation Id:
203716
dbSNP Id:
rs371260517
ExAC:
4:159616697 G / A
gnomAD v2:
4-159616697-G-A
gnomAD v3:
4-158695545-G-A
gnomAD v4:
4-158695545-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158695545G>A , CM000666.2:g.158695545G>A | GRCh38 |
| NC_000004.11:g.159616697G>A , CM000666.1:g.159616697G>A | GRCh37 |
| NC_000004.10:g.159836147G>A | NCBI36 |
| NG_007078.2:g.28204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507475.6:n.506G>A | ||
| ENST00000681978.1:n.982G>A | ||
| ENST00000682178.1:n.1765G>A | ||
| ENST00000682345.1:c.*433G>A | ENSP00000508122.1:n.*433G>A | |
| ENST00000682452.1:n.1064G>A | ||
| ENST00000682456.1:c.733G>A | ENSP00000508240.1:p.Ala245Thr | |
| ENST00000682566.1:n.229G>A | ||
| ENST00000682601.1:n.924G>A | ||
| ENST00000682613.1:n.1045G>A | ||
| ENST00000682734.1:c.-441G>A | ENSP00000507860.1:n.-441G>A | |
| ENST00000682820.1:n.770G>A | ||
| ENST00000683004.1:c.*570G>A | ENSP00000506936.1:n.*570G>A | |
| ENST00000683079.1:c.*113G>A | ENSP00000507296.1:n.*113G>A | |
| ENST00000683081.1:c.*570G>A | ENSP00000507722.1:n.*570G>A | |
| ENST00000683305.1:c.550G>A | ENSP00000508043.1:p.Ala184Thr | |
| ENST00000683448.1:c.238G>A | ENSP00000506931.1:p.Ala80Thr | |
| ENST00000683478.1:c.*113G>A | ENSP00000507793.1:n.*113G>A | |
| ENST00000683483.1:c.733G>A | ENSP00000507719.1:p.Ala245Thr | |
| ENST00000683751.1:c.238G>A | ENSP00000506944.1:p.Ala80Thr | |
| ENST00000684036.1:c.550G>A | ENSP00000507276.1:p.Ala184Thr | |
| ENST00000684129.1:c.-486G>A | ENSP00000507174.1:n.-486G>A | |
| ENST00000684209.1:n.1108G>A | ||
| ENST00000684296.1:c.733G>A | ENSP00000507740.1:p.Ala245Thr | |
| ENST00000684505.1:c.682G>A | ENSP00000508237.1:p.Ala228Thr | |
| ENST00000684552.1:c.733G>A | ENSP00000506899.1:p.Ala245Thr | |
| ENST00000684611.1:n.2461G>A | ||
| ENST00000684622.1:c.733G>A | ENSP00000507546.1:p.Ala245Thr | |
| ENST00000684627.1:c.550G>A | ENSP00000507471.1:p.Ala184Thr | |
| ENST00000684641.1:c.733G>A | ENSP00000507642.1:p.Ala245Thr | |
| ENST00000684675.1:c.733G>A | ENSP00000506934.1:p.Ala245Thr | |
| ENST00000684749.1:n.802G>A | ||
| ENST00000511912.6:c.733G>A MANE Select | ENSP00000426638.1:p.Ala245Thr | |
| ENST00000307738.5:c.592G>A | ENSP00000303552.5:p.Ala198Thr | |
| ENST00000506422.1:n.87-7878G>A | ||
| ENST00000507475.5:c.238G>A | ENSP00000422735.1:p.Ala80Thr | |
| ENST00000511912.5:c.733G>A | ENSP00000426638.1:p.Ala245Thr | |
| NM_001281737.1:c.592G>A | NP_001268666.1:p.Ala198Thr | |
| NM_001281738.1:c.550G>A | NP_001268667.1:p.Ala184Thr | |
| NM_004453.3:c.733G>A | NP_004444.2:p.Ala245Thr | |
| XM_024453935.1:c.550G>A | XP_024309703.1:p.Ala184Thr | |
| NM_004453.4:c.733G>A MANE Select | NP_004444.2:p.Ala245Thr | |
| NM_001281737.2:c.592G>A | NP_001268666.1:p.Ala198Thr |