Linked Data
ClinVar Variation Id:
1901957
ClinVar RCV Id:
RCV002572668
dbSNP Id:
rs1392909263
gnomAD v2:
16-8900272-T-C
gnomAD v4:
16-8806415-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8806415T>C , CM000678.2:g.8806415T>C | GRCh38 |
| NC_000016.9:g.8900272T>C , CM000678.1:g.8900272T>C | GRCh37 |
| NC_000016.8:g.8807773T>C | NCBI36 |
| NG_009209.1:g.13603T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682008.1:c.347+8T>C | ENSP00000507849.1:n.347+8T>C | |
| ENST00000682393.1:c.178+4505T>C | ENSP00000506774.1:n.178+4505T>C | |
| ENST00000683094.1:c.*69+8T>C | ENSP00000508230.1:n.*69+8T>C | |
| ENST00000683274.1:c.347+8T>C | ENSP00000507262.1:n.347+8T>C | |
| ENST00000683435.1:c.*343+8T>C | ENSP00000508092.1:n.*343+8T>C | |
| ENST00000268261.9:c.347+8T>C MANE Select | ENSP00000268261.4:n.347+8T>C | |
| ENST00000268261.8:c.347+8T>C | ENSP00000268261.4:n.347+8T>C | |
| ENST00000562318.5:c.*69+8T>C | ENSP00000454395.1:n.*69+8T>C | |
| ENST00000562448.1:n.319T>C | ||
| ENST00000564030.5:n.417T>C | ||
| ENST00000564069.1:c.318+8T>C | ||
| ENST00000565221.5:c.178+4505T>C | ENSP00000457932.1:n.178+4505T>C | |
| ENST00000565896.5:c.*145+4026T>C | ENSP00000456024.1:n.*145+4026T>C | |
| ENST00000566540.5:c.*69+8T>C | ENSP00000454284.1:n.*69+8T>C | |
| ENST00000566604.5:c.347+8T>C | ENSP00000456774.1:n.347+8T>C | |
| ENST00000566983.5:c.266+8T>C | ENSP00000457956.1:n.266+8T>C | |
| ENST00000568602.5:c.*200+8T>C | ENSP00000455066.1:n.*200+8T>C | |
| ENST00000569958.5:c.178+4505T>C | ENSP00000456302.1:n.178+4505T>C | |
| ENST00000570076.5:c.178+4505T>C | ENSP00000456961.1:n.178+4505T>C | |
| ENST00000570134.5:c.*69+8T>C | ENSP00000456275.1:n.*69+8T>C | |
| NM_000303.2:c.347+8T>C | NP_000294.1:n.347+8T>C | |
| XM_005255372.3:c.347+8T>C | XP_005255429.1:n.347+8T>C | |
| XM_005255373.3:c.98+8T>C | XP_005255430.1:n.98+8T>C | |
| XM_005255374.3:c.98+8T>C | XP_005255431.1:n.98+8T>C | |
| XM_011522538.1:c.347+8T>C | XP_011520840.1:n.347+8T>C | |
| XM_011522539.1:c.-29+4505T>C | XP_011520841.1:n.-29+4505T>C | |
| XM_005255374.4:c.98+8T>C | XP_005255431.1:n.98+8T>C | |
| NM_000303.3:c.347+8T>C MANE Select | NP_000294.1:n.347+8T>C |