Linked Data
dbSNP Id:
rs1421960170
gnomAD v2:
16-8904907-G-A
gnomAD v3:
16-8811050-G-A
gnomAD v4:
16-8811050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8811050G>A , CM000678.2:g.8811050G>A | GRCh38 |
| NC_000016.9:g.8904907G>A , CM000678.1:g.8904907G>A | GRCh37 |
| NC_000016.8:g.8812408G>A | NCBI36 |
| NG_009209.1:g.18238G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3487G>A | ||
| ENST00000682008.1:c.348-29G>A | ENSP00000507849.1:n.348-29G>A | |
| ENST00000682393.1:c.179-29G>A | ENSP00000506774.1:n.179-29G>A | |
| ENST00000683094.1:c.*70-588G>A | ENSP00000508230.1:n.*70-588G>A | |
| ENST00000683274.1:c.348-588G>A | ENSP00000507262.1:n.348-588G>A | |
| ENST00000683435.1:c.*344-588G>A | ENSP00000508092.1:n.*344-588G>A | |
| ENST00000268261.9:c.348-29G>A MANE Select | ENSP00000268261.4:n.348-29G>A | |
| ENST00000268261.8:c.348-29G>A | ENSP00000268261.4:n.348-29G>A | |
| ENST00000562318.5:c.*70-29G>A | ENSP00000454395.1:n.*70-29G>A | |
| ENST00000564069.1:c.319-29G>A | ||
| ENST00000565221.5:c.179-29G>A | ENSP00000457932.1:n.179-29G>A | |
| ENST00000565896.5:c.*146-29G>A | ENSP00000456024.1:n.*146-29G>A | |
| ENST00000566540.5:c.*70-588G>A | ENSP00000454284.1:n.*70-588G>A | |
| ENST00000566604.5:c.348-588G>A | ENSP00000456774.1:n.348-588G>A | |
| ENST00000566983.5:c.267-29G>A | ENSP00000457956.1:n.267-29G>A | |
| ENST00000567697.1:n.3487G>A | ||
| ENST00000568602.5:c.*201-29G>A | ENSP00000455066.1:n.*201-29G>A | |
| ENST00000569958.5:c.179-592G>A | ENSP00000456302.1:n.179-592G>A | |
| ENST00000570076.5:c.179-588G>A | ENSP00000456961.1:n.179-588G>A | |
| ENST00000570134.5:c.*70-588G>A | ENSP00000456275.1:n.*70-588G>A | |
| NM_000303.2:c.348-29G>A | NP_000294.1:n.348-29G>A | |
| XM_005255372.3:c.348-29G>A | XP_005255429.1:n.348-29G>A | |
| XM_005255373.3:c.99-29G>A | XP_005255430.1:n.99-29G>A | |
| XM_005255374.3:c.99-29G>A | XP_005255431.1:n.99-29G>A | |
| XM_011522538.1:c.348-29G>A | XP_011520840.1:n.348-29G>A | |
| XM_011522539.1:c.-28-29G>A | XP_011520841.1:n.-28-29G>A | |
| XM_005255374.4:c.99-29G>A | XP_005255431.1:n.99-29G>A | |
| NM_000303.3:c.348-29G>A MANE Select | NP_000294.1:n.348-29G>A |