Linked Data
ClinVar Variation Id:
2153172
dbSNP Id:
rs143975533
ExAC:
3:48605044 G / A
gnomAD v2:
3-48605044-G-A
gnomAD v3:
3-48567611-G-A
gnomAD v4:
3-48567611-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567611G>A , CM000665.2:g.48567611G>A | GRCh38 |
| NC_000003.11:g.48605044G>A , CM000665.1:g.48605044G>A | GRCh37 |
| NC_000003.10:g.48580048G>A | NCBI36 |
| NG_007065.1:g.32642C>T , LRG_286:g.32642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.8009C>T MANE Select | ENSP00000506558.1:p.Ser2670Leu | |
| ENST00000328333.12:c.8009C>T | ENSP00000332371.8:p.Ser2670Leu | |
| ENST00000487017.5:n.4648C>T | ||
| NM_000094.3:c.8009C>T , LRG_286t1:c.8009C>T | NP_000085.1:p.Ser2670Leu | |
| XM_011533336.1:c.8036C>T | XP_011531638.1:p.Ser2679Leu | |
| XM_011533337.1:c.8009C>T | XP_011531639.1:p.Ser2670Leu | |
| XM_011533338.1:c.7976C>T | XP_011531640.1:p.Ser2659Leu | |
| XR_940369.1:n.8072C>T | ||
| XR_940370.1:n.8072C>T | ||
| XR_940371.1:n.8072C>T | ||
| XM_017005688.1:c.7949C>T | XP_016861177.1:p.Ser2650Leu | |
| XR_001740003.1:n.8045C>T | ||
| XR_001740004.1:n.8045C>T | ||
| XR_001740005.1:n.8045C>T | ||
| NM_000094.4:c.8009C>T MANE Select | NP_000085.1:p.Ser2670Leu |