Linked Data
ClinVar Variation Id:
346807
ClinVar RCV Id:
RCV000350500
dbSNP Id:
rs189313287
ExAC:
3:87299067 T / C
gnomAD v2:
3-87299067-T-C
gnomAD v3:
3-87249917-T-C
gnomAD v4:
3-87249917-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87249917T>C , CM000665.2:g.87249917T>C | GRCh38 |
| NC_000003.11:g.87299067T>C , CM000665.1:g.87299067T>C | GRCh37 |
| NC_000003.10:g.87381757T>C | NCBI36 |
| NG_007885.1:g.27655T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263780.9:c.364T>C MANE Select | ENSP00000263780.4:p.Leu122= | |
| ENST00000472024.3:c.412T>C | ENSP00000480032.2:p.Leu138= | |
| ENST00000676705.1:c.412T>C | ENSP00000504098.1:p.Leu138= | |
| ENST00000677929.1:n.602T>C | ||
| ENST00000678859.1:n.687T>C | ||
| ENST00000263780.8:c.364T>C | ENSP00000263780.4:p.Leu122= | |
| ENST00000471660.5:c.241T>C | ENSP00000419998.1:p.Leu81= | |
| ENST00000472024.2:c.412T>C | ENSP00000480032.1:p.Leu138= | |
| ENST00000494980.5:c.274T>C | ENSP00000418920.1:p.Leu92= | |
| NM_001244644.1:c.241T>C | NP_001231573.1:p.Leu81= | |
| NM_014043.3:c.364T>C | NP_054762.2:p.Leu122= | |
| XM_011533576.1:c.412T>C | XP_011531878.1:p.Leu138= | |
| XM_011533576.2:c.412T>C | XP_011531878.1:p.Leu138= | |
| NM_014043.4:c.364T>C MANE Select | NP_054762.2:p.Leu122= | |
| NM_001244644.2:c.241T>C | NP_001231573.1:p.Leu81= |