Linked Data
ClinVar Variation Id:
1149170
ClinVar RCV Id:
RCV001489337
dbSNP Id:
rs769332588
ExAC:
16:8941631 C / T
gnomAD v2:
16-8941631-C-T
gnomAD v3:
16-8847774-C-T
gnomAD v4:
16-8847774-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847774C>T , CM000678.2:g.8847774C>T | GRCh38 |
| NC_000016.9:g.8941631C>T , CM000678.1:g.8941631C>T | GRCh37 |
| NC_000016.8:g.8849132C>T | NCBI36 |
| NG_009209.1:g.54962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3858C>T | ||
| ENST00000682393.1:c.*258-1595C>T | ENSP00000506774.1:n.*258-1595C>T | |
| ENST00000683094.1:c.*262-1595C>T | ENSP00000508230.1:n.*262-1595C>T | |
| ENST00000683274.1:c.*180-1595C>T | ENSP00000507262.1:n.*180-1595C>T | |
| ENST00000683435.1:c.*586C>T | ENSP00000508092.1:n.*586C>T | |
| ENST00000268261.9:c.690C>T MANE Select | ENSP00000268261.4:p.Ser230= | |
| ENST00000268261.8:c.690C>T | ENSP00000268261.4:p.Ser230= | |
| ENST00000562025.1:n.224C>T | ||
| ENST00000562318.5:c.*412C>T | ENSP00000454395.1:n.*412C>T | |
| ENST00000565221.5:c.*308C>T | ENSP00000457932.1:n.*308C>T | |
| ENST00000566540.5:c.*312C>T | ENSP00000454284.1:n.*312C>T | |
| ENST00000566604.5:c.*230C>T | ENSP00000456774.1:n.*230C>T | |
| ENST00000566983.5:c.609C>T | ENSP00000457956.1:p.Ser203= | |
| ENST00000567697.1:n.3858C>T | ||
| ENST00000569958.5:c.417C>T | ENSP00000456302.1:p.Ser139= | |
| ENST00000570076.5:c.*148C>T | ENSP00000456961.1:n.*148C>T | |
| NM_000303.2:c.690C>T | NP_000294.1:p.Ser230= | |
| XM_005255374.3:c.441C>T | XP_005255431.1:p.Ser147= | |
| XM_011522538.1:c.640-7260C>T | XP_011520840.1:n.640-7260C>T | |
| XM_005255374.4:c.441C>T | XP_005255431.1:p.Ser147= | |
| NM_000303.3:c.690C>T MANE Select | NP_000294.1:p.Ser230= |