Linked Data
ClinVar Variation Id:
194033
dbSNP Id:
rs794727058
gnomAD v4:
5-126555930-C-T
COSMIC:
COSM481814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126555930C>T , CM000667.2:g.126555930C>T | GRCh38 |
| NC_000005.9:g.125891622C>T , CM000667.1:g.125891622C>T | GRCh37 |
| NC_000005.8:g.125919521C>T | NCBI36 |
| NG_008600.2:g.44461G>A | |
| NG_008600.3:g.44461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1093+1G>A MANE Select | ENSP00000387123.3:n.1093+1G>A | |
| ENST00000458249.6:c.*1002+1G>A | ENSP00000403929.1:n.*1002+1G>A | |
| ENST00000497231.7:n.1520+1G>A | ||
| ENST00000503281.6:c.682+1G>A | ||
| ENST00000635851.1:c.1091+1G>A | ||
| ENST00000636062.1:n.988+1G>A | ||
| ENST00000636225.1:c.*1037+1G>A | ENSP00000490797.1:n.*1037+1G>A | |
| ENST00000636286.1:n.811+1G>A | ||
| ENST00000636482.1:n.580+1G>A | ||
| ENST00000636743.1:c.973+1G>A | ENSP00000489725.1:n.973+1G>A | |
| ENST00000636808.1:c.*902+1G>A | ENSP00000490833.1:n.*902+1G>A | |
| ENST00000636872.1:c.1253+1G>A | ENSP00000490919.1:n.1253+1G>A | |
| ENST00000636879.1:c.1138+1G>A | ENSP00000490811.1:n.1138+1G>A | |
| ENST00000636886.1:c.892+1G>A | ENSP00000490371.1:n.892+1G>A | |
| ENST00000637206.1:c.914-1537G>A | ENSP00000489895.1:n.914-1537G>A | |
| ENST00000637272.1:c.1084+1G>A | ENSP00000489686.1:n.1084+1G>A | |
| ENST00000637292.1:c.666+1G>A | ||
| ENST00000637782.1:c.1093+1G>A | ENSP00000490024.1:n.1093+1G>A | |
| ENST00000637964.1:c.1039+1G>A | ENSP00000490291.1:n.1039+1G>A | |
| ENST00000638008.1:c.*937+1G>A | ENSP00000490400.1:n.*937+1G>A | |
| ENST00000409134.7:c.1093+1G>A | ENSP00000387123.3:n.1093+1G>A | |
| ENST00000447989.6:c.1089+3310G>A | ENSP00000414132.2:n.1089+3310G>A | |
| ENST00000497231.6:n.1303+1G>A | ||
| ENST00000503281.5:c.682+1G>A | ||
| ENST00000553117.5:c.1008+3310G>A | ENSP00000448593.1:n.1008+3310G>A | |
| NM_001182.4:c.1093+1G>A | NP_001173.2:n.1093+1G>A | |
| NM_001201377.1:c.1009+1G>A | NP_001188306.1:n.1009+1G>A | |
| NM_001202404.1:c.1089+3310G>A | NP_001189333.1:n.1089+3310G>A | |
| XM_011543417.1:c.688+1G>A | XP_011541719.1:n.688+1G>A | |
| XM_011543417.2:c.688+1G>A | XP_011541719.1:n.688+1G>A | |
| NM_001182.5:c.1093+1G>A MANE Select | NP_001173.2:n.1093+1G>A | |
| NM_001201377.2:c.1009+1G>A | NP_001188306.1:n.1009+1G>A | |
| NM_001202404.2:c.1008+3310G>A | NP_001189333.2:n.1008+3310G>A |