Linked Data
dbSNP Id:
rs1596510092
gnomAD v4:
16-8847971-T-A
MyVariant Identifiers:
chr16:g.8941828T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847971T>A , CM000678.2:g.8847971T>A | GRCh38 |
| NC_000016.9:g.8941828T>A , CM000678.1:g.8941828T>A | GRCh37 |
| NC_000016.8:g.8849329T>A | NCBI36 |
| NG_009209.1:g.55159T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.4055T>A | ||
| ENST00000682393.1:c.*258-1398T>A | ENSP00000506774.1:n.*258-1398T>A | |
| ENST00000683094.1:c.*262-1398T>A | ENSP00000508230.1:n.*262-1398T>A | |
| ENST00000683274.1:c.*180-1398T>A | ENSP00000507262.1:n.*180-1398T>A | |
| ENST00000268261.9:c.*146T>A MANE Select | ENSP00000268261.4:n.*146T>A | |
| ENST00000268261.8:c.*146T>A | ENSP00000268261.4:n.*146T>A | |
| ENST00000562025.1:n.421T>A | ||
| ENST00000562318.5:c.*609T>A | ENSP00000454395.1:n.*609T>A | |
| ENST00000565221.5:c.*505T>A | ENSP00000457932.1:n.*505T>A | |
| ENST00000566540.5:c.*509T>A | ENSP00000454284.1:n.*509T>A | |
| ENST00000566604.5:c.*427T>A | ENSP00000456774.1:n.*427T>A | |
| ENST00000567697.1:n.4055T>A | ||
| ENST00000569958.5:c.*146T>A | ENSP00000456302.1:n.*146T>A | |
| ENST00000570076.5:c.*345T>A | ENSP00000456961.1:n.*345T>A | |
| NM_000303.2:c.*146T>A | NP_000294.1:n.*146T>A | |
| XM_005255374.3:c.*146T>A | XP_005255431.1:n.*146T>A | |
| XM_011522538.1:c.640-7063T>A | XP_011520840.1:n.640-7063T>A | |
| XM_005255374.4:c.*146T>A | XP_005255431.1:n.*146T>A | |
| NM_000303.3:c.*146T>A MANE Select | NP_000294.1:n.*146T>A |