Linked Data
dbSNP Id:
rs2060938650
gnomAD v4:
16-8847881-G-A
MyVariant Identifiers:
chr16:g.8941738G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847881G>A , CM000678.2:g.8847881G>A | GRCh38 |
| NC_000016.9:g.8941738G>A , CM000678.1:g.8941738G>A | GRCh37 |
| NC_000016.8:g.8849239G>A | NCBI36 |
| NG_009209.1:g.55069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3965G>A | ||
| ENST00000682393.1:c.*258-1488G>A | ENSP00000506774.1:n.*258-1488G>A | |
| ENST00000683094.1:c.*262-1488G>A | ENSP00000508230.1:n.*262-1488G>A | |
| ENST00000683274.1:c.*180-1488G>A | ENSP00000507262.1:n.*180-1488G>A | |
| ENST00000683435.1:c.*693G>A | ENSP00000508092.1:n.*693G>A | |
| ENST00000268261.9:c.*56G>A MANE Select | ENSP00000268261.4:n.*56G>A | |
| ENST00000268261.8:c.*56G>A | ENSP00000268261.4:n.*56G>A | |
| ENST00000562025.1:n.331G>A | ||
| ENST00000562318.5:c.*519G>A | ENSP00000454395.1:n.*519G>A | |
| ENST00000565221.5:c.*415G>A | ENSP00000457932.1:n.*415G>A | |
| ENST00000566540.5:c.*419G>A | ENSP00000454284.1:n.*419G>A | |
| ENST00000566604.5:c.*337G>A | ENSP00000456774.1:n.*337G>A | |
| ENST00000567697.1:n.3965G>A | ||
| ENST00000569958.5:c.*56G>A | ENSP00000456302.1:n.*56G>A | |
| ENST00000570076.5:c.*255G>A | ENSP00000456961.1:n.*255G>A | |
| NM_000303.2:c.*56G>A | NP_000294.1:n.*56G>A | |
| XM_005255374.3:c.*56G>A | XP_005255431.1:n.*56G>A | |
| XM_011522538.1:c.640-7153G>A | XP_011520840.1:n.640-7153G>A | |
| XM_005255374.4:c.*56G>A | XP_005255431.1:n.*56G>A | |
| NM_000303.3:c.*56G>A MANE Select | NP_000294.1:n.*56G>A |