Linked Data
ClinVar Variation Id:
2010555
ClinVar RCV Id:
RCV002834069
dbSNP Id:
rs1219610835
gnomAD v4:
16-75555879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75555879G>A , CM000678.2:g.75555879G>A | GRCh38 |
| NC_000016.9:g.75589777G>A , CM000678.1:g.75589777G>A | GRCh37 |
| NC_000016.8:g.74147278G>A | NCBI36 |
| NG_033109.1:g.5408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.234C>T | ENSP00000510128.1:p.Asp78= | |
| ENST00000686547.1:c.234C>T | ENSP00000508790.1:p.Asp78= | |
| ENST00000688270.1:c.234C>T | ENSP00000509823.1:p.Asp78= | |
| ENST00000688618.1:c.234C>T | ENSP00000509271.1:p.Asp78= | |
| ENST00000689040.1:c.234C>T | ENSP00000508573.1:p.Asp78= | |
| ENST00000692097.1:c.234C>T | ENSP00000509668.1:p.Asp78= | |
| ENST00000692215.1:n.277C>T | ||
| ENST00000693457.1:c.234C>T | ENSP00000508414.1:p.Asp78= | |
| ENST00000693682.1:c.234C>T | ENSP00000508670.1:p.Asp78= | |
| ENST00000258173.11:c.234C>T MANE Select | ENSP00000258173.5:p.Asp78= | |
| ENST00000258173.10:c.234C>T | ENSP00000258173.5:p.Asp78= | |
| ENST00000561809.1:n.384C>T | ||
| ENST00000562410.5:c.234C>T | ENSP00000454582.1:p.Asp78= | |
| ENST00000564576.1:n.270C>T | ||
| ENST00000565067.5:c.234C>T | ENSP00000457254.1:p.Asp78= | |
| ENST00000568377.5:c.321C>T | ENSP00000476267.1:p.Asp107= | |
| ENST00000570006.5:c.234C>T | ENSP00000455520.1:p.Asp78= | |
| ENST00000615437.1:c.47C>T | ||
| NM_001077416.2:c.393C>T | NP_001070884.2:p.Asp131= | |
| NM_001077418.2:c.234C>T | NP_001070886.1:p.Asp78= | |
| NR_074083.1:n.311C>T | ||
| NM_001077418.3:c.234C>T MANE Select | NP_001070886.1:p.Asp78= | |
| NR_074083.2:n.277C>T |