Linked Data
ClinVar Variation Id:
378895
dbSNP Id:
rs746212816
ExAC:
5:125894979 C / T
gnomAD v2:
5-125894979-C-T
gnomAD v4:
5-126559287-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126559287C>T , CM000667.2:g.126559287C>T | GRCh38 |
| NC_000005.9:g.125894979C>T , CM000667.1:g.125894979C>T | GRCh37 |
| NC_000005.8:g.125922878C>T | NCBI36 |
| NG_008600.2:g.41104G>A | |
| NG_008600.3:g.41104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.961G>A MANE Select | ENSP00000387123.3:p.Ala321Thr | |
| ENST00000458249.6:c.*870G>A | ENSP00000403929.1:n.*870G>A | |
| ENST00000497231.7:n.1388G>A | ||
| ENST00000503281.6:c.550G>A | ||
| ENST00000509459.6:c.470G>A | ||
| ENST00000635851.1:c.959G>A | ||
| ENST00000636062.1:n.856G>A | ||
| ENST00000636225.1:c.*905G>A | ENSP00000490797.1:n.*905G>A | |
| ENST00000636286.1:n.679G>A | ||
| ENST00000636482.1:n.448G>A | ||
| ENST00000636743.1:c.841G>A | ENSP00000489725.1:p.Ala281Thr | |
| ENST00000636808.1:c.*770G>A | ENSP00000490833.1:n.*770G>A | |
| ENST00000636872.1:c.1121G>A | ENSP00000490919.1:n.1121G>A | |
| ENST00000636879.1:c.1006G>A | ENSP00000490811.1:p.Ala336Thr | |
| ENST00000636886.1:c.760G>A | ENSP00000490371.1:p.Ala254Thr | |
| ENST00000637206.1:c.913+1796G>A | ENSP00000489895.1:n.913+1796G>A | |
| ENST00000637272.1:c.952G>A | ENSP00000489686.1:p.Ala318Thr | |
| ENST00000637292.1:c.534G>A | ||
| ENST00000637782.1:c.961G>A | ENSP00000490024.1:p.Ala321Thr | |
| ENST00000637964.1:c.907G>A | ENSP00000490291.1:p.Ala303Thr | |
| ENST00000638008.1:c.*805G>A | ENSP00000490400.1:n.*805G>A | |
| ENST00000409134.7:c.961G>A | ENSP00000387123.3:p.Ala321Thr | |
| ENST00000447989.6:c.1042G>A | ENSP00000414132.2:p.Ala348Thr | |
| ENST00000497231.6:n.1171G>A | ||
| ENST00000503281.5:c.550G>A | ||
| ENST00000509459.5:c.470G>A | ||
| ENST00000553117.5:c.961G>A | ENSP00000448593.1:p.Ala321Thr | |
| NM_001182.4:c.961G>A | NP_001173.2:p.Ala321Thr | |
| NM_001201377.1:c.877G>A | NP_001188306.1:p.Ala293Thr | |
| NM_001202404.1:c.1042G>A | NP_001189333.1:p.Ala348Thr | |
| XM_011543417.1:c.556G>A | XP_011541719.1:p.Ala186Thr | |
| XM_011543417.2:c.556G>A | XP_011541719.1:p.Ala186Thr | |
| NM_001182.5:c.961G>A MANE Select | NP_001173.2:p.Ala321Thr | |
| NM_001201377.2:c.877G>A | NP_001188306.1:p.Ala293Thr | |
| NM_001202404.2:c.961G>A | NP_001189333.2:p.Ala321Thr |