Linked Data
ClinVar Variation Id:
152
dbSNP Id:
rs121965039
gnomAD v3:
10-124408601-C-A
gnomAD v4:
10-124408601-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124408601C>A , CM000672.2:g.124408601C>A | GRCh38 |
| NC_000010.10:g.126097170C>A , CM000672.1:g.126097170C>A | GRCh37 |
| NC_000010.9:g.126087160C>A | NCBI36 |
| NG_008861.1:g.15350G>T , LRG_685:g.15350G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.461G>T MANE Select | ENSP00000357838.5:p.Arg154Leu | |
| ENST00000368845.5:c.461G>T | ENSP00000357838.5:p.Arg154Leu | |
| ENST00000467675.5:n.88G>T | ||
| ENST00000476917.5:n.526G>T | ||
| ENST00000539214.5:c.47G>T | ENSP00000439042.1:p.Arg16Leu | |
| NM_000274.3:c.461G>T , LRG_685t1:c.461G>T | NP_000265.1:p.Arg154Leu | |
| NM_001171814.1:c.47G>T | NP_001165285.1:p.Arg16Leu | |
| XM_006717871.2:c.461G>T | XP_006717934.1:p.Arg154Leu | |
| XM_011539833.1:c.461G>T | XP_011538135.1:p.Arg154Leu | |
| XM_011539834.1:c.461G>T | XP_011538136.1:p.Arg154Leu | |
| NM_001322965.1:c.461G>T | NP_001309894.1:p.Arg154Leu | |
| NM_001322966.1:c.461G>T | NP_001309895.1:p.Arg154Leu | |
| NM_001322967.1:c.461G>T | NP_001309896.1:p.Arg154Leu | |
| NM_001322968.1:c.461G>T | NP_001309897.1:p.Arg154Leu | |
| NM_001322969.1:c.461G>T | NP_001309898.1:p.Arg154Leu | |
| NM_001322970.1:c.461G>T | NP_001309899.1:p.Arg154Leu | |
| NM_001322971.1:c.200-3038G>T | NP_001309900.1:n.200-3038G>T | |
| NM_001322974.1:c.-254G>T | NP_001309903.1:n.-254G>T | |
| XM_017016279.1:c.-1993G>T | XP_016871768.1:n.-1993G>T | |
| NM_000274.4:c.461G>T MANE Select | NP_000265.1:p.Arg154Leu | |
| NM_001322965.2:c.461G>T | NP_001309894.1:p.Arg154Leu | |
| NM_001322966.2:c.461G>T | NP_001309895.1:p.Arg154Leu | |
| NM_001322967.2:c.461G>T | NP_001309896.1:p.Arg154Leu | |
| NM_001322968.2:c.461G>T | NP_001309897.1:p.Arg154Leu | |
| NM_001322969.2:c.461G>T | NP_001309898.1:p.Arg154Leu | |
| NM_001322970.2:c.461G>T | NP_001309899.1:p.Arg154Leu | |
| NM_001322971.2:c.200-3038G>T | NP_001309900.1:n.200-3038G>T | |
| NM_001322974.2:c.-254G>T | NP_001309903.1:n.-254G>T | |
| NM_001171814.2:c.47G>T | NP_001165285.1:p.Arg16Leu |