Linked Data
ClinVar Variation Id:
509449
ClinVar RCV Id:
RCV000606648
dbSNP Id:
rs946928494
gnomAD v2:
16-69364748-C-A
gnomAD v3:
16-69330845-C-A
gnomAD v4:
16-69330845-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69330845C>A , CM000678.2:g.69330845C>A | GRCh38 |
| NC_000016.9:g.69364748C>A , CM000678.1:g.69364748C>A | GRCh37 |
| NC_000016.8:g.67922249C>A | NCBI36 |
| NG_009013.1:g.13779G>T | |
| NG_033043.1:g.4751G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.1833G>T MANE Select | ENSP00000305459.6:p.Gly611= | |
| ENST00000306875.8:c.1833G>T | ENSP00000305459.4:p.Gly611= | |
| ENST00000562595.5:c.549+4481G>T | ||
| ENST00000562949.1:c.352-1666G>T | ENSP00000457718.1:n.352-1666G>T | |
| NM_032382.4:c.1833G>T | NP_115758.3:p.Gly611= | |
| NM_032382.5:c.1833G>T MANE Select | NP_115758.3:p.Gly611= | |
| NM_001379261.1:c.1974G>T | NP_001366190.1:p.Gly658= | |
| NM_001379262.1:c.1759+74G>T | NP_001366191.1:n.1759+74G>T | |
| NM_001379263.1:c.1872G>T | NP_001366192.1:p.Gly624= | |
| NM_001379264.1:c.1833G>T | NP_001366193.1:p.Gly611= | |
| NM_001379265.1:c.1583-1666G>T | NP_001366194.1:n.1583-1666G>T | |
| NM_001379266.1:c.1414-1666G>T | NP_001366195.1:n.1414-1666G>T |