Linked Data
ClinVar Variation Id:
713794
ClinVar RCV Id:
RCV000885988
dbSNP Id:
rs576615757
ExAC:
8:134108566 C / T
gnomAD v2:
8-134108566-C-T
gnomAD v3:
8-133096322-C-T
gnomAD v4:
8-133096322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133096322C>T , CM000670.2:g.133096322C>T | GRCh38 |
| NC_000008.10:g.134108566C>T , CM000670.1:g.134108566C>T | GRCh37 |
| NC_000008.9:g.134177748C>T | NCBI36 |
| NG_015832.1:g.234362C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.7521C>T (TG) MANE Select | ENSP00000220616.4:p.Leu2507= | |
| ENST00000338087.10:c.-319+6231G>A (SLA) MANE Select | ENSP00000337548.5:n.-319+6231G>A | |
| ENST00000220616.8:c.7521C>T (TG) | ENSP00000220616.4:p.Leu2507= | |
| ENST00000338087.9:c.-319+6231G>A (SLA) | ENSP00000337548.5:n.-319+6231G>A | |
| ENST00000395352.7:c.11+6231G>A (SLA) | ENSP00000378759.3:n.11+6231G>A | |
| ENST00000517648.5:c.11+6231G>A (SLA) | ENSP00000428559.1:n.11+6231G>A | |
| ENST00000517932.1:n.61-6207G>A (SLA) | ||
| ENST00000518565.5:n.324+6231G>A (SLA) | ||
| ENST00000519178.5:c.2887C>T (TG) | ||
| ENST00000519341.5:c.-442+6231G>A (SLA) | ENSP00000429681.1:n.-442+6231G>A | |
| ENST00000519543.5:c.1920C>T (TG) | ENSP00000430430.1:p.Leu640= | |
| ENST00000519558.5:c.-468+6231G>A (SLA) | ENSP00000429143.1:n.-468+6231G>A | |
| ENST00000519747.5:c.-419+6231G>A (SLA) | ENSP00000428971.1:n.-419+6231G>A | |
| ENST00000521302.5:c.-388+6231G>A (SLA) | ENSP00000430184.1:n.-388+6231G>A | |
| ENST00000521823.5:n.76+6231G>A (SLA) | ||
| ENST00000522119.5:c.-41+6078G>A (SLA) | ENSP00000430596.1:n.-41+6078G>A | |
| ENST00000522809.1:n.167C>T (TG) | ||
| ENST00000522946.5:n.143+6078G>A (SLA) | ||
| ENST00000522996.5:n.703C>T (TG) | ||
| ENST00000523610.5:c.-319+6078G>A (SLA) | ENSP00000428087.1:n.-319+6078G>A | |
| ENST00000523756.5:c.4176C>T (TG) | ||
| ENST00000524345.5:c.-264+6231G>A (SLA) | ENSP00000427928.1:n.-264+6231G>A | |
| NM_001045556.2:c.-319+6231G>A (SLA) | NP_001039021.1:n.-319+6231G>A | |
| NM_001045557.2:c.11+6231G>A (SLA) | NP_001039022.2:n.11+6231G>A | |
| NM_001282964.1:c.11+6231G>A (SLA) | NP_001269893.1:n.11+6231G>A | |
| NM_001282965.1:c.-264+6231G>A (SLA) | NP_001269894.1:n.-264+6231G>A | |
| NM_003235.4:c.7521C>T (TG) | NP_003226.4:p.Leu2507= | |
| XM_005251038.3:c.7329C>T (TG) | XP_005251095.1:p.Leu2443= | |
| XM_006716622.2:c.7458C>T (TG) | XP_006716685.1:p.Leu2486= | |
| XM_005251038.4:c.7329C>T (TG) | XP_005251095.1:p.Leu2443= | |
| XM_006716622.3:c.7458C>T (TG) | XP_006716685.1:p.Leu2486= | |
| XM_017013739.2:c.-542+6231G>A (SLA) | XP_016869228.1:n.-542+6231G>A | |
| XM_017013793.1:c.7455C>T (TG) | XP_016869282.1:p.Leu2485= | |
| XM_017013794.1:c.7521C>T (TG) | XP_016869283.1:p.Leu2507= | |
| XM_017013795.1:c.7350C>T (TG) | XP_016869284.1:p.Leu2450= | |
| XM_017013796.1:c.7302C>T (TG) | XP_016869285.1:p.Leu2434= | |
| XM_017013797.1:c.7260C>T (TG) | XP_016869286.1:p.Leu2420= | |
| NM_001045556.3:c.-319+6231G>A (SLA) MANE Select | NP_001039021.1:n.-319+6231G>A | |
| NM_003235.5:c.7521C>T (TG) MANE Select | NP_003226.4:p.Leu2507= | |
| NM_001045557.3:c.11+6231G>A (SLA) | NP_001039022.2:n.11+6231G>A | |
| NM_001282964.2:c.11+6231G>A (SLA) | NP_001269893.1:n.11+6231G>A | |
| NM_001282965.2:c.-264+6231G>A (SLA) | NP_001269894.1:n.-264+6231G>A |