Linked Data
ClinVar Variation Id:
356877
dbSNP Id:
rs148979835
ExAC:
6:43488108 G / A
gnomAD v2:
6-43488108-G-A
gnomAD v3:
6-43520370-G-A
gnomAD v4:
6-43520370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43520370G>A , CM000668.2:g.43520370G>A | GRCh38 |
| NC_000006.11:g.43488108G>A , CM000668.1:g.43488108G>A | GRCh37 |
| NC_000006.10:g.43596086G>A | NCBI36 |
| NG_028283.1:g.8332G>A | |
| NG_028283.3:g.15669G>A | |
| NG_051658.1:g.60706C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607635.2:c.598G>A | ENSP00000496683.1:p.Ala200Thr | |
| ENST00000642195.1:c.598G>A MANE Select | ENSP00000496044.1:p.Ala200Thr | |
| ENST00000643341.1:c.598G>A | ENSP00000496018.1:p.Ala200Thr | |
| ENST00000643799.1:c.598G>A | ENSP00000494529.1:p.Ala200Thr | |
| ENST00000645141.1:c.*209G>A | ENSP00000496755.1:n.*209G>A | |
| ENST00000646188.1:c.433G>A | ENSP00000496001.1:p.Ala145Thr | |
| ENST00000646433.1:c.598G>A | ENSP00000494368.1:p.Ala200Thr | |
| ENST00000646700.1:c.598G>A | ENSP00000495521.1:p.Ala200Thr | |
| ENST00000304004.7:c.598G>A | ENSP00000307212.3:p.Ala200Thr | |
| ENST00000372344.6:c.598G>A | ENSP00000361419.2:p.Ala200Thr | |
| ENST00000372389.7:c.598G>A | ENSP00000361465.3:p.Ala200Thr | |
| ENST00000455605.2:n.891G>A | ||
| ENST00000481352.6:n.970G>A | ||
| ENST00000488601.6:n.837G>A | ||
| NM_203290.2:c.598G>A | NP_976035.1:p.Ala200Thr | |
| XM_005249491.1:c.598G>A | XP_005249548.1:p.Ala200Thr | |
| XM_011515000.1:c.598G>A | XP_011513302.1:p.Ala200Thr | |
| NM_001318876.1:c.598G>A | NP_001305805.1:p.Ala200Thr | |
| NM_001363658.1:c.598G>A | NP_001350587.1:p.Ala200Thr | |
| NM_203290.3:c.598G>A | NP_976035.1:p.Ala200Thr | |
| NM_203290.4:c.598G>A MANE Select | NP_976035.1:p.Ala200Thr | |
| NM_001363658.2:c.598G>A | NP_001350587.1:p.Ala200Thr | |
| NM_001318876.2:c.598G>A | NP_001305805.1:p.Ala200Thr |