Linked Data
ClinVar Variation Id:
429981
dbSNP Id:
rs191295403
ExAC:
16:8904955 C / T
gnomAD v2:
16-8904955-C-T
gnomAD v3:
16-8811098-C-T
gnomAD v4:
16-8811098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8811098C>T , CM000678.2:g.8811098C>T | GRCh38 |
| NC_000016.9:g.8904955C>T , CM000678.1:g.8904955C>T | GRCh37 |
| NC_000016.8:g.8812456C>T | NCBI36 |
| NG_009209.1:g.18286C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567697.2:n.3535C>T | ||
| ENST00000682008.1:c.367C>T | ENSP00000507849.1:p.Arg123Ter | |
| ENST00000682393.1:c.198C>T | ENSP00000506774.1:p.Ser66= | |
| ENST00000683094.1:c.*70-540C>T | ENSP00000508230.1:n.*70-540C>T | |
| ENST00000683274.1:c.348-540C>T | ENSP00000507262.1:n.348-540C>T | |
| ENST00000683435.1:c.*344-540C>T | ENSP00000508092.1:n.*344-540C>T | |
| ENST00000268261.9:c.367C>T MANE Select | ENSP00000268261.4:p.Arg123Ter | |
| ENST00000268261.8:c.367C>T | ENSP00000268261.4:p.Arg123Ter | |
| ENST00000562318.5:c.*89C>T | ENSP00000454395.1:n.*89C>T | |
| ENST00000564069.1:c.338C>T | ||
| ENST00000565221.5:c.198C>T | ENSP00000457932.1:p.Ser66= | |
| ENST00000565896.5:c.*165C>T | ENSP00000456024.1:n.*165C>T | |
| ENST00000566540.5:c.*70-540C>T | ENSP00000454284.1:n.*70-540C>T | |
| ENST00000566604.5:c.348-540C>T | ENSP00000456774.1:n.348-540C>T | |
| ENST00000566983.5:c.286C>T | ENSP00000457956.1:p.Arg96Ter | |
| ENST00000567697.1:n.3535C>T | ||
| ENST00000568602.5:c.*220C>T | ENSP00000455066.1:n.*220C>T | |
| ENST00000569958.5:c.179-544C>T | ENSP00000456302.1:n.179-544C>T | |
| ENST00000570076.5:c.179-540C>T | ENSP00000456961.1:n.179-540C>T | |
| ENST00000570134.5:c.*70-540C>T | ENSP00000456275.1:n.*70-540C>T | |
| NM_000303.2:c.367C>T | NP_000294.1:p.Arg123Ter | |
| XM_005255372.3:c.367C>T | XP_005255429.1:p.Arg123Ter | |
| XM_005255373.3:c.118C>T | XP_005255430.1:p.Arg40Ter | |
| XM_005255374.3:c.118C>T | XP_005255431.1:p.Arg40Ter | |
| XM_011522538.1:c.367C>T | XP_011520840.1:p.Arg123Ter | |
| XM_011522539.1:c.-9C>T | XP_011520841.1:n.-9C>T | |
| XM_005255374.4:c.118C>T | XP_005255431.1:p.Arg40Ter | |
| NM_000303.3:c.367C>T MANE Select | NP_000294.1:p.Arg123Ter |