Linked Data
ClinVar Variation Id:
899827
ClinVar RCV Id:
RCV001144649
dbSNP Id:
rs56084310
ExAC:
3:165491157 G / A
gnomAD v2:
3-165491157-G-A
gnomAD v3:
3-165773369-G-A
gnomAD v4:
3-165773369-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165773369G>A , CM000665.2:g.165773369G>A | GRCh38 |
| NC_000003.11:g.165491157G>A , CM000665.1:g.165491157G>A | GRCh37 |
| NC_000003.10:g.166973851G>A | NCBI36 |
| NG_009031.1:g.69097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.*13C>T MANE Select | ENSP00000264381.3:n.*13C>T | |
| ENST00000264381.7:c.*13C>T | ENSP00000264381.3:n.*13C>T | |
| ENST00000479451.5:c.412C>T | ENSP00000418325.1:n.412C>T | |
| ENST00000482958.1:c.*328C>T | ENSP00000419804.1:n.*328C>T | |
| ENST00000497011.5:c.*212C>T | ENSP00000419505.1:n.*212C>T | |
| NM_000055.2:c.*13C>T | NP_000046.1:n.*13C>T | |
| XM_005247685.1:c.*13C>T | XP_005247742.1:n.*13C>T | |
| NM_000055.3:c.*13C>T | NP_000046.1:n.*13C>T | |
| NR_137635.1:n.464C>T | ||
| NR_137636.1:n.2068C>T | ||
| NM_000055.4:c.*13C>T MANE Select | NP_000046.1:n.*13C>T | |
| NR_137635.2:n.415C>T | ||
| NR_137636.2:n.2019C>T |