Linked Data
ClinVar Variation Id:
1048054
dbSNP Id:
rs762084565
ExAC:
3:48606237 G / A
gnomAD v2:
3-48606237-G-A
gnomAD v3:
3-48568804-G-A
gnomAD v4:
3-48568804-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48568804G>A , CM000665.2:g.48568804G>A | GRCh38 |
| NC_000003.11:g.48606237G>A , CM000665.1:g.48606237G>A | GRCh37 |
| NC_000003.10:g.48581241G>A | NCBI36 |
| NG_007065.1:g.31449C>T , LRG_286:g.31449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7738C>T MANE Select | ENSP00000506558.1:p.Arg2580Cys | |
| ENST00000328333.12:c.7738C>T | ENSP00000332371.8:p.Arg2580Cys | |
| ENST00000459756.5:n.561C>T | ||
| ENST00000467985.1:n.584C>T | ||
| ENST00000487017.5:n.4377C>T | ||
| NM_000094.3:c.7738C>T , LRG_286t1:c.7738C>T | NP_000085.1:p.Arg2580Cys | |
| XM_011533336.1:c.7765C>T | XP_011531638.1:p.Arg2589Cys | |
| XM_011533337.1:c.7738C>T | XP_011531639.1:p.Arg2580Cys | |
| XM_011533338.1:c.7705C>T | XP_011531640.1:p.Arg2569Cys | |
| XM_011533339.1:c.7765C>T | XP_011531641.1:p.Arg2589Cys | |
| XR_940369.1:n.7801C>T | ||
| XR_940370.1:n.7801C>T | ||
| XR_940371.1:n.7801C>T | ||
| XR_940372.1:n.7775C>T | ||
| XM_017005688.1:c.7678C>T | XP_016861177.1:p.Arg2560Cys | |
| XM_017005689.1:c.7738C>T | XP_016861178.1:p.Arg2580Cys | |
| XR_001740003.1:n.7774C>T | ||
| XR_001740004.1:n.7774C>T | ||
| XR_001740005.1:n.7774C>T | ||
| XR_001740006.1:n.7748C>T | ||
| NM_000094.4:c.7738C>T MANE Select | NP_000085.1:p.Arg2580Cys |