Linked Data
ClinVar Variation Id:
465322
ClinVar RCV Id:
RCV000546567
dbSNP Id:
rs1217642695
gnomAD v3:
5-126554286-C-A
gnomAD v4:
5-126554286-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126554286C>A , CM000667.2:g.126554286C>A | GRCh38 |
| NC_000005.9:g.125889978C>A , CM000667.1:g.125889978C>A | GRCh37 |
| NC_000005.8:g.125917877C>A | NCBI36 |
| NG_008600.2:g.46105G>T | |
| NG_008600.3:g.46105G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1200+1G>T MANE Select | ENSP00000387123.3:n.1200+1G>T | |
| ENST00000458249.6:c.*1109+1G>T | ENSP00000403929.1:n.*1109+1G>T | |
| ENST00000497231.7:n.1627+1G>T | ||
| ENST00000503281.6:c.789+1G>T | ||
| ENST00000635851.1:c.1198+1G>T | ||
| ENST00000636062.1:n.1095+1G>T | ||
| ENST00000636225.1:c.*1144+1G>T | ENSP00000490797.1:n.*1144+1G>T | |
| ENST00000636286.1:n.918+1G>T | ||
| ENST00000636482.1:n.687+1G>T | ||
| ENST00000636743.1:c.1080+1G>T | ENSP00000489725.1:n.1080+1G>T | |
| ENST00000636808.1:c.*1009+1G>T | ENSP00000490833.1:n.*1009+1G>T | |
| ENST00000636872.1:c.1360+1G>T | ENSP00000490919.1:n.1360+1G>T | |
| ENST00000636879.1:c.1245+1G>T | ENSP00000490811.1:n.1245+1G>T | |
| ENST00000636886.1:c.999+1G>T | ENSP00000490371.1:n.999+1G>T | |
| ENST00000637206.1:c.1020+1G>T | ENSP00000489895.1:n.1020+1G>T | |
| ENST00000637272.1:c.1191+1G>T | ENSP00000489686.1:n.1191+1G>T | |
| ENST00000637292.1:c.773+1G>T | ||
| ENST00000637782.1:c.1200+1G>T | ENSP00000490024.1:n.1200+1G>T | |
| ENST00000638008.1:c.*1044+1G>T | ENSP00000490400.1:n.*1044+1G>T | |
| ENST00000638010.1:n.1146+1G>T | ||
| ENST00000409134.7:c.1200+1G>T | ENSP00000387123.3:n.1200+1G>T | |
| ENST00000447989.6:c.1090-2149G>T | ENSP00000414132.2:n.1090-2149G>T | |
| ENST00000497231.6:n.1410+1G>T | ||
| ENST00000503281.5:c.789+1G>T | ||
| ENST00000553117.5:c.1009-2149G>T | ENSP00000448593.1:n.1009-2149G>T | |
| NM_001182.4:c.1200+1G>T | NP_001173.2:n.1200+1G>T | |
| NM_001201377.1:c.1116+1G>T | NP_001188306.1:n.1116+1G>T | |
| NM_001202404.1:c.1090-2149G>T | NP_001189333.1:n.1090-2149G>T | |
| XM_011543417.1:c.795+1G>T | XP_011541719.1:n.795+1G>T | |
| XM_011543417.2:c.795+1G>T | XP_011541719.1:n.795+1G>T | |
| NM_001182.5:c.1200+1G>T MANE Select | NP_001173.2:n.1200+1G>T | |
| NM_001201377.2:c.1116+1G>T | NP_001188306.1:n.1116+1G>T | |
| NM_001202404.2:c.1009-2149G>T | NP_001189333.2:n.1009-2149G>T |