Linked Data
ClinVar Variation Id:
344097
ClinVar RCV Id:
RCV000371428
dbSNP Id:
rs201820739
ExAC:
3:165548394 C / T
gnomAD v2:
3-165548394-C-T
gnomAD v3:
3-165830606-C-T
gnomAD v4:
3-165830606-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830606C>T , CM000665.2:g.165830606C>T | GRCh38 |
| NC_000003.11:g.165548394C>T , CM000665.1:g.165548394C>T | GRCh37 |
| NC_000003.10:g.167031088C>T | NCBI36 |
| NG_009031.1:g.11860G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.428G>A MANE Select | ENSP00000264381.3:p.Gly143Asp | |
| ENST00000264381.7:c.428G>A | ENSP00000264381.3:p.Gly143Asp | |
| ENST00000479451.5:c.107+6708G>A | ENSP00000418325.1:n.107+6708G>A | |
| ENST00000482958.1:c.428G>A | ENSP00000419804.1:p.Gly143Asp | |
| ENST00000488954.1:c.107+6708G>A | ENSP00000418504.1:n.107+6708G>A | |
| ENST00000497011.5:c.428G>A | ENSP00000419505.1:p.Gly143Asp | |
| NM_000055.2:c.428G>A | NP_000046.1:p.Gly143Asp | |
| XM_005247685.1:c.551G>A | XP_005247742.1:p.Gly184Asp | |
| NM_000055.3:c.428G>A | NP_000046.1:p.Gly143Asp | |
| NR_137635.1:n.159+6708G>A | ||
| NR_137636.1:n.595G>A | ||
| NM_000055.4:c.428G>A MANE Select | NP_000046.1:p.Gly143Asp | |
| NR_137635.2:n.110+6708G>A | ||
| NR_137636.2:n.546G>A |