Linked Data
ClinVar Variation Id:
3056240
ClinVar RCV Id:
RCV003978952
dbSNP Id:
rs12539800
ExAC:
7:129479138 T / C
gnomAD v2:
7-129479138-T-C
gnomAD v3:
7-129839298-T-C
gnomAD v4:
7-129839298-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129839298T>C , CM000669.2:g.129839298T>C | GRCh38 |
| NC_000007.13:g.129479138T>C , CM000669.1:g.129479138T>C | GRCh37 |
| NC_000007.12:g.129266374T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355621.8:c.336A>G MANE Select | ENSP00000347836.3:p.Leu112= | |
| ENST00000649897.1:c.126A>G | ENSP00000497987.1:p.Leu42= | |
| ENST00000355621.7:c.336A>G | ENSP00000347836.3:p.Leu112= | |
| ENST00000472396.5:c.299-23A>G | ENSP00000419689.1:n.299-23A>G | |
| ENST00000473814.6:c.243A>G | ENSP00000419097.2:p.Leu81= | |
| ENST00000480245.5:c.363A>G | ENSP00000417709.1:n.363A>G | |
| ENST00000483368.1:n.444A>G | ||
| ENST00000496698.5:c.237A>G | ENSP00000417681.1:p.Leu79= | |
| NM_001202498.1:c.126A>G | NP_001189427.1:p.Leu42= | |
| NM_003344.3:c.336A>G | NP_003335.1:p.Leu112= | |
| NM_182697.2:c.243A>G | NP_874356.1:p.Leu81= | |
| XM_011516547.1:c.525A>G | XP_011514849.1:p.Leu175= | |
| NM_001202498.2:c.126A>G | NP_001189427.1:p.Leu42= | |
| NM_003344.4:c.336A>G MANE Select | NP_003335.1:p.Leu112= | |
| NM_182697.3:c.243A>G | NP_874356.1:p.Leu81= |