Linked Data
ClinVar Variation Id:
1390728
ClinVar RCV Id:
RCV001910816
dbSNP Id:
rs2134430916
gnomAD v4:
11-61955841-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61955841T>A , CM000673.2:g.61955841T>A | GRCh38 |
| NC_000011.9:g.61723313T>A , CM000673.1:g.61723313T>A | GRCh37 |
| NC_000011.8:g.61479889T>A | NCBI36 |
| NG_009033.1:g.10958T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.371T>A MANE Select | ENSP00000367282.4:p.Leu124Gln | |
| ENST00000378043.8:c.371T>A | ENSP00000367282.4:p.Leu124Gln | |
| ENST00000449131.6:c.191T>A | ENSP00000399709.2:p.Leu64Gln | |
| ENST00000524877.5:n.803T>A | ||
| ENST00000524926.5:c.371T>A | ENSP00000432681.1:p.Leu124Gln | |
| ENST00000526988.1:c.53T>A | ENSP00000433195.1:p.Leu18Gln | |
| ENST00000529265.5:n.294T>A | ||
| ENST00000533521.5:n.995T>A | ||
| ENST00000534553.5:c.53T>A | ENSP00000431189.1:p.Leu18Gln | |
| NM_001139443.1:c.191T>A | NP_001132915.1:p.Leu64Gln | |
| NM_001300786.1:c.191T>A | NP_001287715.1:p.Leu64Gln | |
| NM_001300787.1:c.191T>A | NP_001287716.1:p.Leu64Gln | |
| NM_004183.3:c.371T>A | NP_004174.1:p.Leu124Gln | |
| XM_005274210.2:c.371T>A | XP_005274267.1:p.Leu124Gln | |
| XM_005274215.2:c.53T>A | XP_005274272.1:p.Leu18Gln | |
| XM_005274216.2:c.191T>A | XP_005274273.1:p.Leu64Gln | |
| XM_005274218.3:c.53T>A | XP_005274275.1:p.Leu18Gln | |
| XM_005274219.2:c.371T>A | XP_005274276.1:p.Leu124Gln | |
| XM_005274221.2:c.371T>A | XP_005274278.1:p.Leu124Gln | |
| XM_011545229.1:c.371T>A | XP_011543531.1:p.Leu124Gln | |
| XM_011545230.1:c.278T>A | XP_011543532.1:p.Leu93Gln | |
| XM_011545231.1:c.53T>A | XP_011543533.1:p.Leu18Gln | |
| XM_011545232.1:c.371T>A | XP_011543534.1:p.Leu124Gln | |
| NM_001363591.1:c.53T>A | NP_001350520.1:p.Leu18Gln | |
| NM_001363592.1:c.371T>A | NP_001350521.1:p.Leu124Gln | |
| NM_001363593.1:c.-805T>A | NP_001350522.1:n.-805T>A | |
| NR_134580.1:n.951T>A | ||
| XM_005274210.4:c.371T>A | XP_005274267.1:p.Leu124Gln | |
| XM_005274215.4:c.53T>A | XP_005274272.1:p.Leu18Gln | |
| XM_005274216.4:c.191T>A | XP_005274273.1:p.Leu64Gln | |
| XM_005274219.4:c.371T>A | XP_005274276.1:p.Leu124Gln | |
| XM_005274221.4:c.371T>A | XP_005274278.1:p.Leu124Gln | |
| XM_011545229.3:c.371T>A | XP_011543531.1:p.Leu124Gln | |
| XM_011545230.3:c.278T>A | XP_011543532.1:p.Leu93Gln | |
| XM_017018230.2:c.53T>A | XP_016873719.1:p.Leu18Gln | |
| XR_001747952.2:n.869T>A | ||
| XR_001747953.2:n.1061T>A | ||
| XR_001747954.2:n.1061T>A | ||
| XR_002957249.1:n.1897A>T | ||
| NM_004183.4:c.371T>A MANE Select | NP_004174.1:p.Leu124Gln | |
| NM_001139443.2:c.191T>A | NP_001132915.1:p.Leu64Gln | |
| NM_001300786.2:c.191T>A | NP_001287715.1:p.Leu64Gln | |
| NM_001300787.2:c.191T>A | NP_001287716.1:p.Leu64Gln | |
| NM_001363591.2:c.53T>A | NP_001350520.1:p.Leu18Gln | |
| NM_001363593.2:c.-805T>A | NP_001350522.1:n.-805T>A | |
| NR_134580.2:n.484T>A |