Linked Data
ClinVar Variation Id:
1609593
ClinVar RCV Id:
RCV002155282
dbSNP Id:
rs946076506
gnomAD v2:
7-150648636-G-C
gnomAD v4:
7-150951548-G-C
COSMIC:
COSM128285
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951548G>C , CM000669.2:g.150951548G>C | GRCh38 |
| NC_000007.13:g.150648636G>C , CM000669.1:g.150648636G>C | GRCh37 |
| NC_000007.12:g.150279569G>C | NCBI36 |
| NG_008916.1:g.31379C>G , LRG_288:g.31379C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1143C>G | ||
| ENST00000684241.1:n.2678C>G | ||
| ENST00000262186.10:c.1845C>G MANE Select | ENSP00000262186.5:p.Leu615= | |
| ENST00000330883.9:c.825C>G | ENSP00000328531.4:p.Leu275= | |
| ENST00000262186.9:c.1845C>G | ENSP00000262186.5:p.Leu615= | |
| ENST00000330883.8:c.825C>G | ENSP00000328531.4:p.Leu275= | |
| ENST00000430723.4:c.1497C>G | ENSP00000387657.4:p.Leu499= | |
| ENST00000461280.1:n.1132C>G | ||
| ENST00000473610.5:n.1150C>G | ||
| ENST00000532957.5:n.2068C>G | ||
| NM_000238.3:c.1845C>G , LRG_288t1:c.1845C>G | NP_000229.1:p.Leu615= | |
| NM_001204798.1:c.825C>G | NP_001191727.1:p.Leu275= | |
| NM_172056.2:c.1845C>G , LRG_288t2:c.1845C>G | NP_742053.1:p.Leu615= | |
| NM_172057.2:c.825C>G , LRG_288t3:c.825C>G | NP_742054.1:p.Leu275= | |
| XM_011516185.1:c.1545C>G | XP_011514487.1:p.Leu515= | |
| XM_011516186.1:c.1845C>G | XP_011514488.1:p.Leu615= | |
| XM_011516185.2:c.1545C>G | XP_011514487.1:p.Leu515= | |
| XM_011516186.3:c.1845C>G | XP_011514488.1:p.Leu615= | |
| XM_017012195.1:c.1695C>G | XP_016867684.1:p.Leu565= | |
| XM_017012196.1:c.1668C>G | XP_016867685.1:p.Leu556= | |
| NM_000238.4:c.1845C>G MANE Select | NP_000229.1:p.Leu615= | |
| NM_001204798.2:c.825C>G | NP_001191727.1:p.Leu275= | |
| NM_172057.3:c.825C>G | NP_742054.1:p.Leu275= |