Linked Data
ClinVar Variation Id:
21173
ClinVar RCV Id:
RCV000020295
dbSNP Id:
rs137853861
ExAC:
1:24122724 C / T
gnomAD v2:
1-24122724-C-T
gnomAD v3:
1-23796234-C-T
gnomAD v4:
1-23796234-C-T
PubMed:
PMID:21290786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796234C>T , CM000663.2:g.23796234C>T | GRCh38 |
| NC_000001.10:g.24122724C>T , CM000663.1:g.24122724C>T | GRCh37 |
| NC_000001.9:g.23995311C>T | NCBI36 |
| NG_007068.1:g.9571G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617979.5:c.905G>A MANE Select | ENSP00000483375.1:p.Gly302Asp | |
| ENST00000374497.7:c.905G>A | ENSP00000363621.3:p.Gly302Asp | |
| ENST00000429356.5:c.635G>A | ENSP00000398585.1:p.Gly212Asp | |
| ENST00000456977.5:c.185G>A | ENSP00000397045.1:p.Gly62Asp | |
| ENST00000459934.5:n.1133G>A | ||
| ENST00000469556.1:n.652G>A | ||
| ENST00000481736.5:n.1309G>A | ||
| ENST00000617979.4:c.905G>A | ENSP00000483375.1:p.Gly302Asp | |
| NM_000403.3:c.905G>A | NP_000394.2:p.Gly302Asp | |
| NM_001008216.1:c.905G>A | NP_001008217.1:p.Gly302Asp | |
| NM_001127621.1:c.905G>A | NP_001121093.1:p.Gly302Asp | |
| NM_001008216.2:c.905G>A MANE Select | NP_001008217.1:p.Gly302Asp | |
| NM_000403.4:c.905G>A | NP_000394.2:p.Gly302Asp | |
| NM_001127621.2:c.905G>A | NP_001121093.1:p.Gly302Asp |