Linked Data
ClinVar Variation Id:
317960
ClinVar RCV Id:
RCV000341162
dbSNP Id:
rs764398895
ExAC:
16:1510960 C / T
gnomAD v2:
16-1510960-C-T
gnomAD v4:
16-1460959-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1460959C>T , CM000678.2:g.1460959C>T | GRCh38 |
| NC_000016.9:g.1510960C>T , CM000678.1:g.1510960C>T | GRCh37 |
| NC_000016.8:g.1450961C>T | NCBI36 |
| NG_007567.1:g.19126G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699947.1:c.352-11G>A | ENSP00000514703.1:n.352-11G>A | |
| ENST00000699948.1:c.352-11G>A | ENSP00000514704.1:n.352-11G>A | |
| ENST00000699950.1:n.304-11G>A | ||
| ENST00000382745.9:c.352-11G>A MANE Select | ENSP00000372193.4:n.352-11G>A | |
| ENST00000262318.12:c.280-11G>A | ENSP00000262318.8:n.280-11G>A | |
| ENST00000382745.8:c.352-11G>A | ENSP00000372193.4:n.352-11G>A | |
| ENST00000448525.5:c.280-11G>A | ENSP00000410907.1:n.280-11G>A | |
| ENST00000561665.5:n.382-11G>A | ||
| ENST00000564568.1:c.247-11G>A | ENSP00000454845.1:n.247-11G>A | |
| ENST00000567139.1:n.403-11G>A | ||
| ENST00000569851.6:c.178-11G>A | ENSP00000461009.1:n.178-11G>A | |
| NM_001114331.2:c.280-11G>A | NP_001107803.1:n.280-11G>A | |
| NM_001287.5:c.352-11G>A | NP_001278.1:n.352-11G>A | |
| XM_011522354.1:c.178-11G>A | XP_011520656.1:n.178-11G>A | |
| NM_001287.6:c.352-11G>A MANE Select | NP_001278.1:n.352-11G>A | |
| NM_001114331.3:c.280-11G>A | NP_001107803.1:n.280-11G>A |