Linked Data
ClinVar Variation Id:
1329635
ClinVar RCV Id:
RCV001799943
dbSNP Id:
rs1373876757
gnomAD v2:
16-8900269-G-A
gnomAD v3:
16-8806412-G-A
gnomAD v4:
16-8806412-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8806412G>A , CM000678.2:g.8806412G>A | GRCh38 |
| NC_000016.9:g.8900269G>A , CM000678.1:g.8900269G>A | GRCh37 |
| NC_000016.8:g.8807770G>A | NCBI36 |
| NG_009209.1:g.13600G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682008.1:c.347+5G>A | ENSP00000507849.1:n.347+5G>A | |
| ENST00000682393.1:c.178+4502G>A | ENSP00000506774.1:n.178+4502G>A | |
| ENST00000683094.1:c.*69+5G>A | ENSP00000508230.1:n.*69+5G>A | |
| ENST00000683274.1:c.347+5G>A | ENSP00000507262.1:n.347+5G>A | |
| ENST00000683435.1:c.*343+5G>A | ENSP00000508092.1:n.*343+5G>A | |
| ENST00000268261.9:c.347+5G>A MANE Select | ENSP00000268261.4:n.347+5G>A | |
| ENST00000268261.8:c.347+5G>A | ENSP00000268261.4:n.347+5G>A | |
| ENST00000562318.5:c.*69+5G>A | ENSP00000454395.1:n.*69+5G>A | |
| ENST00000562448.1:n.316G>A | ||
| ENST00000564030.5:n.414G>A | ||
| ENST00000564069.1:c.318+5G>A | ||
| ENST00000565221.5:c.178+4502G>A | ENSP00000457932.1:n.178+4502G>A | |
| ENST00000565896.5:c.*145+4023G>A | ENSP00000456024.1:n.*145+4023G>A | |
| ENST00000566540.5:c.*69+5G>A | ENSP00000454284.1:n.*69+5G>A | |
| ENST00000566604.5:c.347+5G>A | ENSP00000456774.1:n.347+5G>A | |
| ENST00000566983.5:c.266+5G>A | ENSP00000457956.1:n.266+5G>A | |
| ENST00000568602.5:c.*200+5G>A | ENSP00000455066.1:n.*200+5G>A | |
| ENST00000569958.5:c.178+4502G>A | ENSP00000456302.1:n.178+4502G>A | |
| ENST00000570076.5:c.178+4502G>A | ENSP00000456961.1:n.178+4502G>A | |
| ENST00000570134.5:c.*69+5G>A | ENSP00000456275.1:n.*69+5G>A | |
| NM_000303.2:c.347+5G>A | NP_000294.1:n.347+5G>A | |
| XM_005255372.3:c.347+5G>A | XP_005255429.1:n.347+5G>A | |
| XM_005255373.3:c.98+5G>A | XP_005255430.1:n.98+5G>A | |
| XM_005255374.3:c.98+5G>A | XP_005255431.1:n.98+5G>A | |
| XM_011522538.1:c.347+5G>A | XP_011520840.1:n.347+5G>A | |
| XM_011522539.1:c.-29+4502G>A | XP_011520841.1:n.-29+4502G>A | |
| XM_005255374.4:c.98+5G>A | XP_005255431.1:n.98+5G>A | |
| NM_000303.3:c.347+5G>A MANE Select | NP_000294.1:n.347+5G>A |