Linked Data
ClinVar Variation Id:
100556
dbSNP Id:
rs61733362
ExAC:
5:149275993 G / C
gnomAD v2:
5-149275993-G-C
gnomAD v3:
5-149896430-G-C
gnomAD v4:
5-149896430-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149896430G>C , CM000667.2:g.149896430G>C | GRCh38 |
| NC_000005.9:g.149275993G>C , CM000667.1:g.149275993G>C | GRCh37 |
| NC_000005.8:g.149256186G>C | NCBI36 |
| NG_009102.1:g.53364C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.1546C>G MANE Select | ENSP00000255266.5:p.Leu516Val | |
| ENST00000255266.9:c.1546C>G | ENSP00000255266.5:p.Leu516Val | |
| ENST00000508173.5:n.1730C>G | ||
| ENST00000613228.1:c.1303C>G | ENSP00000478060.1:p.Leu435Val | |
| ENST00000617647.4:c.1303C>G | ENSP00000482774.1:p.Leu435Val | |
| NM_000440.2:c.1546C>G | NP_000431.2:p.Leu516Val | |
| XM_011537648.1:c.1546C>G | XP_011535950.1:p.Leu516Val | |
| XM_011537649.1:c.1000C>G | XP_011535951.1:p.Leu334Val | |
| XM_011537650.1:c.661C>G | XP_011535952.1:p.Leu221Val | |
| XM_011537651.1:c.499C>G | XP_011535953.1:p.Leu167Val | |
| XM_011537652.1:c.469C>G | XP_011535954.1:p.Leu157Val | |
| XM_011537653.1:c.469C>G | XP_011535955.1:p.Leu157Val | |
| XM_011537654.1:c.469C>G | XP_011535956.1:p.Leu157Val | |
| XM_011537650.2:c.661C>G | XP_011535952.1:p.Leu221Val | |
| XM_011537651.2:c.499C>G | XP_011535953.1:p.Leu167Val | |
| XM_011537653.2:c.469C>G | XP_011535955.1:p.Leu157Val | |
| XM_011537654.2:c.469C>G | XP_011535956.1:p.Leu157Val | |
| XM_017009572.2:c.1303C>G | XP_016865061.1:p.Leu435Val | |
| NM_000440.3:c.1546C>G MANE Select | NP_000431.2:p.Leu516Val |