Linked Data
ClinVar Variation Id:
2874601
ClinVar RCV Id:
RCV003611198
dbSNP Id:
rs758011168
ExAC:
11:2906541 C / A
gnomAD v2:
11-2906541-C-A
gnomAD v3:
11-2885311-C-A
gnomAD v4:
11-2885311-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2885311C>A , CM000673.2:g.2885311C>A | GRCh38 |
| NC_000011.9:g.2906541C>A , CM000673.1:g.2906541C>A | GRCh37 |
| NC_000011.8:g.2863117C>A | NCBI36 |
| NG_008022.1:g.5455G>T , LRG_533:g.5455G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.142+323G>T | ||
| ENST00000380725.2:c.146G>T | ENSP00000370101.1:p.Arg49Leu | |
| ENST00000414822.8:c.179G>T | ENSP00000413720.3:p.Arg60Leu | |
| ENST00000430149.3:c.179G>T | ENSP00000411552.2:p.Arg60Leu | |
| ENST00000440480.8:c.146G>T MANE Select | ENSP00000411257.2:p.Arg49Leu | |
| ENST00000647251.1:c.146G>T | ENSP00000496631.1:p.Arg49Leu | |
| ENST00000380725.1:c.146G>T | ENSP00000370101.1:p.Arg49Leu | |
| ENST00000414822.7:c.179G>T | ENSP00000413720.3:p.Arg60Leu | |
| ENST00000430149.2:c.179G>T | ENSP00000411552.2:p.Arg60Leu | |
| ENST00000440480.6:c.146G>T | ENSP00000411257.2:p.Arg49Leu | |
| NM_000076.2:c.179G>T , LRG_533t1:c.179G>T | NP_000067.1:p.Arg60Leu | |
| NM_001122630.1:c.146G>T | NP_001116102.1:p.Arg49Leu | |
| NM_001122631.1:c.146G>T | NP_001116103.1:p.Arg49Leu | |
| XM_005252732.3:c.146G>T | XP_005252789.1:p.Arg49Leu | |
| NM_001362474.1:c.179G>T | NP_001349403.1:p.Arg60Leu | |
| NM_001362475.1:c.146G>T | NP_001349404.1:p.Arg49Leu | |
| NM_001122630.2:c.146G>T MANE Select | NP_001116102.1:p.Arg49Leu | |
| NM_001122631.2:c.146G>T | NP_001116103.1:p.Arg49Leu | |
| NM_001362474.2:c.179G>T | NP_001349403.1:p.Arg60Leu | |
| NM_001362475.2:c.146G>T | NP_001349404.1:p.Arg49Leu |