Linked Data
ClinVar Variation Id:
1934996
ClinVar RCV Id:
RCV002622885
dbSNP Id:
rs767812535
ExAC:
11:61160119 C / G
gnomAD v2:
11-61160119-C-G
gnomAD v3:
11-61392647-C-G
gnomAD v4:
11-61392647-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392647C>G , CM000673.2:g.61392647C>G | GRCh38 |
| NC_000011.9:g.61160119C>G , CM000673.1:g.61160119C>G | GRCh37 |
| NC_000011.8:g.60916695C>G | NCBI36 |
| NG_032976.1:g.5288C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.16C>G | ENSP00000334844.5:p.Leu6Val | |
| ENST00000544795.6:n.61C>G | ||
| ENST00000684926.1:n.18C>G | ||
| ENST00000688959.1:c.-258C>G | ENSP00000509213.1:n.-258C>G | |
| ENST00000690736.1:c.16C>G | ENSP00000508542.1:p.Leu6Val | |
| ENST00000515837.7:c.16C>G MANE Select | ENSP00000440638.1:p.Leu6Val | |
| ENST00000334888.9:c.16C>G | ENSP00000334844.5:p.Leu6Val | |
| ENST00000398979.7:c.-182C>G | ENSP00000381950.3:n.-182C>G | |
| ENST00000515837.6:c.16C>G | ENSP00000440638.1:p.Leu6Val | |
| ENST00000541473.1:n.16C>G | ||
| ENST00000544795.5:n.18C>G | ||
| NM_001173990.2:c.16C>G | NP_001167461.1:p.Leu6Val | |
| NM_001173991.2:c.16C>G | NP_001167462.1:p.Leu6Val | |
| NM_016499.5:c.-182C>G | NP_057583.2:n.-182C>G | |
| XM_005274039.3:c.-316C>G | XP_005274096.1:n.-316C>G | |
| NM_001330285.1:c.-182C>G | NP_001317214.1:n.-182C>G | |
| XM_005274039.4:c.-316C>G | XP_005274096.1:n.-316C>G | |
| NM_001173990.3:c.16C>G MANE Select | NP_001167461.1:p.Leu6Val | |
| NM_001173991.3:c.16C>G | NP_001167462.1:p.Leu6Val | |
| NM_001330285.2:c.-182C>G | NP_001317214.1:n.-182C>G | |
| NM_016499.6:c.-182C>G | NP_057583.2:n.-182C>G |