Linked Data
ClinVar Variation Id:
210117
dbSNP Id:
rs747643987
ExAC:
5:125929088 C / A
gnomAD v2:
5-125929088-C-A
gnomAD v3:
5-126593396-C-A
gnomAD v4:
5-126593396-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126593396C>A , CM000667.2:g.126593396C>A | GRCh38 |
| NC_000005.9:g.125929088C>A , CM000667.1:g.125929088C>A | GRCh37 |
| NC_000005.8:g.125956987C>A | NCBI36 |
| NG_008600.2:g.6995G>T | |
| NG_008600.3:g.6995G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.201G>T MANE Select | ENSP00000387123.3:p.Thr67= | |
| ENST00000412186.2:c.201G>T | ENSP00000414536.2:p.Thr67= | |
| ENST00000413020.6:c.201G>T | ENSP00000487936.1:p.Thr67= | |
| ENST00000458249.6:c.*110G>T | ENSP00000403929.1:n.*110G>T | |
| ENST00000479989.6:n.384G>T | ||
| ENST00000503281.6:c.106+1611G>T | ||
| ENST00000509270.2:c.201G>T | ENSP00000449318.2:p.Thr67= | |
| ENST00000509459.6:c.65+1611G>T | ||
| ENST00000511266.6:n.923G>T | ||
| ENST00000635851.1:c.199G>T | ||
| ENST00000635858.1:n.40G>T | ||
| ENST00000635933.1:n.230G>T | ||
| ENST00000636062.1:n.96G>T | ||
| ENST00000636190.1:n.80G>T | ||
| ENST00000636225.1:c.*10G>T | ENSP00000490797.1:n.*10G>T | |
| ENST00000636743.1:c.192+1611G>T | ENSP00000489725.1:n.192+1611G>T | |
| ENST00000636808.1:c.*10G>T | ENSP00000490833.1:n.*10G>T | |
| ENST00000636872.1:c.361G>T | ENSP00000490919.1:n.361G>T | |
| ENST00000636879.1:c.201G>T | ENSP00000490811.1:p.Thr67= | |
| ENST00000636886.1:c.192+1611G>T | ENSP00000490371.1:n.192+1611G>T | |
| ENST00000637206.1:c.201G>T | ENSP00000489895.1:p.Thr67= | |
| ENST00000637272.1:c.201G>T | ENSP00000489686.1:p.Thr67= | |
| ENST00000637782.1:c.201G>T | ENSP00000490024.1:p.Thr67= | |
| ENST00000637964.1:c.193-667G>T | ENSP00000490291.1:n.193-667G>T | |
| ENST00000638008.1:c.*10G>T | ENSP00000490400.1:n.*10G>T | |
| ENST00000409134.7:c.201G>T | ENSP00000387123.3:p.Thr67= | |
| ENST00000412186.1:c.*10G>T | ENSP00000414536.1:n.*10G>T | |
| ENST00000413020.5:c.201G>T | ENSP00000487936.1:p.Thr67= | |
| ENST00000447989.6:c.282G>T | ENSP00000414132.2:p.Thr94= | |
| ENST00000458249.5:c.361G>T | ENSP00000403929.1:n.361G>T | |
| ENST00000479989.5:n.384G>T | ||
| ENST00000503281.5:c.106+1611G>T | ||
| ENST00000509270.1:c.192+1611G>T | ENSP00000449318.1:n.192+1611G>T | |
| ENST00000509459.5:c.65+1611G>T | ||
| ENST00000510111.6:c.195G>T | ENSP00000447388.1:p.Thr65= | |
| ENST00000511266.5:n.156G>T | ||
| ENST00000553117.5:c.201G>T | ENSP00000448593.1:p.Thr67= | |
| NM_001182.4:c.201G>T | NP_001173.2:p.Thr67= | |
| NM_001201377.1:c.117G>T | NP_001188306.1:p.Thr39= | |
| NM_001202404.1:c.282G>T | NP_001189333.1:p.Thr94= | |
| XM_011543417.1:c.-205G>T | XP_011541719.1:n.-205G>T | |
| XM_011543417.2:c.-205G>T | XP_011541719.1:n.-205G>T | |
| NM_001182.5:c.201G>T MANE Select | NP_001173.2:p.Thr67= | |
| NM_001201377.2:c.117G>T | NP_001188306.1:p.Thr39= | |
| NM_001202404.2:c.201G>T | NP_001189333.2:p.Thr67= |